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},
"code": "G30",
"name": "Болезнь Альцгеймера",
"icd_name": "Болезнь Альцгеймера",
"gender": 0,
"age_min": 45,
"age_max": 100,
"cause": [
"3"
],
"periodicity": 1,
"slug": "g30_bolezn_alcgeymera",
"lead": "хроническое нейродегенеративное заболевание, постепенно приводящее к развитию стойкой деменции и распаду личности",
"description": "<p><span id=\"docs-internal-guid-055b2229-7fff-2e5e-4d31-1dca236906e2\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Болезнь Альцгеймера – это заболевание головного мозга, которое проявляется снижением умственной работоспособности и расстройствами личности.</span></span></p>",
"etiology": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Точные причины развития болезни Альцгеймера пока не выяснены. Доказано, что риск заболевания существенно возрастает:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">при наследственной предрасположенности (доказана связь заболевания с некоторыми генными мутациями);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">при острых и хронических нарушениях кровоснабжения головного мозга (инсульты, транзиторные ишемические атаки, атеросклероз, артериальная гипертензия и т.п.);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">на фоне перенесенных сотрясений или ушибов головного мозга;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">при доброкачественных и злокачественных опухолях мозга;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">у людей, страдающих депрессией, а также перенесших сильную психологическую травму;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">на фоне вредных привычек (курение, злоупотребление спиртными напитками), а также острых или хронических интоксикаций;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">при низкой интеллектуальной активности в течение жизни.</span></li>\r\n</ul>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Возраст является одним из главных предрасполагающих факторов: чем старше человек, тем выше риск возникновения патологии. Кроме того, женщины болеют чаще мужчин.</span></p>",
"pathogenesis": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Макроскопически выявляется диффузная атрофия головного мозга с уменьшением объёма извилин и расширением боковых борозд, наиболее выраженная в височно-теменной области.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">У значительной части больных цереброваскулярная патология может инициировать или усиливать дегенеративный процесс, связанный с отложением амилоида или другими характерными для заболевания изменениями.</span></p>",
"diagnostics": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Диагностикой болезни Альцгеймера и определением ее стадии занимаются неврологи и психиатры. Комплекс обследований включает:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">опрос и сбор жалоб;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">изучение истории заболевания (когда появились первые проблемы, с какой скоростью они нарастали и т.п.);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">оценка анамнеза жизни: перенесенные и имеющиеся заболевания, травмы, наследственный фактор;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">подробный неврологический осмотр;</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Лабораторную диагностику:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">общий анализ крови и мочи;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">биохимический анализ крови: уровень глюкозы, липидный спектр, показатели свертываемости и т.п.;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">исследование спинномозговой жидкости для выявления бета-амилоида (один из специфических признаков болезни Альцгеймера);</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Инструментальную диагностику:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">электроэнцефалография;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">КТ или МРТ головного мозга (позволяет выявить специфические изменения);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">позитронно-эмиссионная томография (ПЭТ) для оценки уровня метаболизма тканей (дает возможность выявить проблему на ранних стадиях развития);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">УЗДГ сосудов шеи и головного мозга (выявляет сужения, тромбы, атеросклеротические бляшки);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">ЭКГ, УЗИ сердца для оценки его работы.</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Одним из основных методов диагностики болезни Альцгеймера являются нейропсихологические тесты для оценки когнитивных расстройств:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">назвать предметы, изображенные на рисунке;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">запомнить 5 не связанных между собой слов, повторить их сразу и через 3 минуты;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">распределить слова по категориям (еда, животные, мебель и т.п.);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">выполнить простейшие арифметические действия;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">нарисовать часы, показывающие конкретное время;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">срисовать рисунок или написать предложение под диктовку.</span></li>\r\n</ul>\r\n<p> </p>",
"treatment": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Лечение направлено на замедление прогрессирования патологии. Врачи используют препараты различных групп для улучшения работы центральной нервной системы и купирования основных симптомов:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">антихолинэстеразные препараты, направленные на улучшение памяти (донепезил, реминил и другие);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">мемантин, замедляющий прогрессирования дистрофии и уменьшающий выраженность симптомов (единственный препарат, одобренный ВОЗ для лечения болезни Альцгеймера);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">препараты для улучшения обмена веществ в клетках мозга (мексидол, винпоцетин, пентоксифилилн);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">ноотропы (церебролизин, актовегин) для стимуляции формирования дополнительных связей между нервными клетками;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">симптоматические средства: антидепрессанты, нейролептики, анксиолитики и т.п.</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Комбинация препаратов, их дозировка, кратность и срок приема подбирается врачом в индивидуальном порядке.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">В качестве дополнения к медикаментозному лечению используются различные психотерапевтические методики. Они помогают снизить агрессию и тревожность, улучшить качество мышления и стимулировать память. Хороший эффект обеспечивают:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">арт-терапия: улучшает эмоциональное состояние больного, снижает уровень тревожности и депрессии, уменьшает агрессию;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">занятия в сенсорной комнате и сенсорная интеграция;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">терапия воспоминаниями (используется при тяжелой деменции, помогает настроить пациента на положительный лад).</span></li>\r\n</ul>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Одновременно с терапией проводится обучение родственников правилам поведения с больным и ухода за ним. </span></p>\r\n<p><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\"> </span></p>",
"prevention": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Комплекс мероприятий для профилактики болезни Альцгеймера актуален для всех людей. Он снижает риск развития заболевания у здоровых и уменьшает скорость его прогрессирования у больных. Врачи рекомендуют:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">соблюдать режим труда и отдыха, не допускать хронического стресса и переутомления;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">не допускать гиподинамии, регулярно давать организму умеренную физическую нагрузку (пешие прогулки, плавание, езда на велосипеде);</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">исключить употребление спиртных напитков, курение;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">держать под контролем уровень артериального давления, глюкозы крови, олестерина;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">правильно питаться: в рационе должно присутствовать достаточное количество белков, жиров и углеводов, а также микроэлементов; желательно, чтобы в меню регулярно были жирная морская рыба, оливки и оливковое масло, цельнозерновой хлеб, орехи, шпинат, фрукты;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">обеспечивать нагрузку для головного мозга: решать кроссворды, учить стихи, читать классическую литературу, играть в шахматы и т.п.;</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">регулярно проходить обследование у врача.</span></li>\r\n</ul>\r\n<p> </p>",
"clinical_picture": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Болезнь Альцгеймера связана с деградацией памяти, а также когнитивных, эмоциональных и социальных навыков. Первым симптомом сенильной деменции является растущее нарушение запоминаемости и ориентации. В дальнейшем возникают персеверации, а также апраксия и афазия.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Основные симптомы болезни Альцгеймера:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">амнезия (потеря памяти, забывчивость);</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">апраксия (утрата практических навыков, например, одевания, завязывания шнурков, приготовления кофе и пр.);</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">агнозия (отсутствие интерпретации воспринимаемой информации);</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">моторная афазия (нарушение речи, невнятная речь);</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">апатия (отсутствие интереса к жизни).</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Личность и поведение также меняются в ходе заболевания. Многие пациенты становятся беспокойными, агрессивными или подавленными.</span></p>\r\n<p><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\"> </span></p>",
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},
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},
"code": "D58.2",
"name": "Другие гемоглобинопатии",
"icd_name": "Другие гемоглобинопатии",
"gender": 0,
"age_min": 1,
"age_max": 100,
"cause": [
"0"
],
"periodicity": 1,
"slug": "d58.2_drugie_gemoglobinopatii",
"lead": "общее название группы наследственных болезней, обусловленных нарушениями синтеза или строения гемоглобина",
"description": "",
"etiology": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Гемоглобинопатии относятся к аутосомно-рецессивным генетическим заболеваниям. Качественные гемоглобинопатии развиваются вследствие мутаций генов, ответственных за синтез определенных аминокислот в бета-цепи глобина. В результате происходит замена одной аминокислоты на другую (глутаминовой кислоты на валин, лизин и пр.). Это приводит к образованию аномального гемоглобина, гораздо менее растворимого, чем нормальный гемоглобин А, придающего красным кровяным тельцам иную форму (мишеневидную, серповидную), что нарушает их функции и уменьшает продолжительность жизни.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Количественные гемоглобинопатии обусловлены мутацией генов, которые кодируют целую цепь глобина (чаще альфа и бета). При этом сдвигается баланс между глобиновыми цепями – при недостаточном синтезе альфа-цепей возникает избыток бета-цепей, и наоборот. Уменьшаются размеры эритроцитов, в них снижается содержание гемоглобина, а мембрана становится более подверженной различным повреждениям.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Существуют факторы, провоцирующие тяжелые приступы (кризы). К ним относятся обезвоживание, переохлаждения, инфекции, сопровождающиеся высокой лихорадкой. У женщин обострения нередко развиваются на фоне беременности. Но главный патологический стимул качественных гемоглобинопатий – уменьшение концентрации в крови кислорода (гипоксия). Это может произойти, например, при подъеме на большую высоту (восхождение на гору, полет на самолете), где снижено парциальное давление кислорода воздуха, или при тяжелых болезнях дыхательной системы (пневмонии).</span></p>",
"pathogenesis": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Гемоглобинопатии имеют сходные патогенетические механизмы. Модифицированная структура гемоглобина предрасполагает к интенсивному гемолизу. Текущая длительная анемия способствует компенсаторной гиперплазии костного мозга. Появляется деформация костей черепа, искривление позвоночника. Развиваются экстрамедуллярные очаги кроветворения, что приводит к увеличению размеров печени и селезенки (гепатоспленомегалия). Из-за спленомегалии возникает гиперспленизм: повышенное разрушение эритроцитов синусоидами селезенки.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">И</span><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">з-за регулярного гемолиза эритроцитов печень выделяет большое количество билирубина в желчь, создавая условия для образования камней желчного пузыря. У пациентов с гемоглобинопатиями часто возникает перегрузка железом как в результате постоянных переливаний крови, так и из-за повышенной абсорбции железа желудочно-кишечным трактом. Большое количество железа в тканях улучшает процессы перекисного окисления липидов, которые повреждают различные органы.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">При высококачественных гемоглобинопатиях под влиянием пониженного содержания кислорода в крови аномальные нерастворимые молекулы гемоглобина растягивают мембрану эритроцита, что приводит к изменению его формы. Деформированные эритроциты переносят худший кислород и также могут прилипать к эндотелию сосудов, блокируя таким образом мелкие сосуды, вызывая тромбоз, окклюзию и сердечные приступы.</span></p>",
"diagnostics": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">При общем осмотре уделяется внимание цвету кожи (бледность, желтуха), нарушению конституции (задержка нервно-психического развития, физическое развитие ребенка, аномалии в строении скелета). Дополнительные тесты включают в себя: </span></p>\r\n<ul>\r\n<li><span style=\"font-size: 7pt; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Для общего анализа крови пациентов с высококачественными гемоглобинопатиями характерна типичная умеренная анемия, а для пациентов с количественными гемоглобинопатиями характерна тяжелая микроцитарная анемия. Мазок крови содержит измененные деформированные эритроциты (серповидные, сферические). При биохимическом анализе крови уровни свободного железа, ферритина и непрямого билирубина повышаются.</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Электрофорез гемоглобина. Основной метод диагностики гемоглобиновой патологии, широко используемый в клинической гематологии, определяет соотношение фракции гемоглобина - мембранный электрофорез с ацетатом целлюлозы или агара лимонной кислоты. </span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Генетические исследования. ПЦР-тестирование ДНК проводится только в рамках пренатальной диагностики с целью генетического консультирования семей с повышенным риском развития патологий гемоглобина. Образцы ДНК получают амниоцентезом на 8-10 и 14-16 неделях беременности. Наличие мутаций различных генов определяется.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Инструментальные исследования. На рентгенограмме костей конечностей имеются признаки роста костного мозга - истончение кортикального слоя, зоны остеопороза, расширение канала костного мозга. На рентгенограмме костей черепа выявляется игольчатый периостоз («феномен волосатого черепа»). УЗИ брюшной полости выявляет гепатоспленомегалию, камни в желчном пузыре.</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p> </p>",
"treatment": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Подбор консервативной терапии производится с учетом типа гемоглобинопатии, течения заболевания, наличия определенных осложнений. Клинические симптомы и лабораторные данные (в основном, анализ крови) оцениваются. Различают следующие области лечения:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Остановка кризисов. В случае вазоокклюзионных кризов используются анальгетики (нестероидные противовоспалительные препараты) и синдром сильной боли - наркотические анальгетики. Кроме того, для подавления деформации деформированных эритроцитов назначают ингаляции кислорода, оральную или внутривенную регидратацию.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Предотвращение кризисов. Для постоянного приема пациентов с качественными гемоглобинопатиями назначают гидроксимочевину. Это лекарство стимулирует образование внутриутробного гемоглобина, который подавляет экспрессию гена, ответственного за синтез аномальных нерастворимых гемоглобинов, что снижает склонность к деформации эритроцитов и снижает частоту кризов.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Терапия осложнений. Инфекционные осложнения лечат антибактериальными препаратами, которые эффективны против пневмококков, гемофильной палочки и менингококков до тех пор, пока не станут доступны результаты бактериологических исследований. Используются антибиотики из группы пенициллина (амоксициллин). Антикоагулянты (низкомолекулярный, нефракционированный гепарин) используются при развитии тромбоза. Поскольку у пациентов с количественной патологией гемоглобина всегда тяжелая анемия, основой лечения являются регулярные переливания крови. У людей с качественной гемоглобинопатией переливание крови проводится только во время секвестрации, гемолитического и апластического кризов.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Борьба с перегрузкой железом и дефицитом фолиевой кислоты. Хелатирующие агенты (дефероксамин) используются для удаления избытка железа из организма. Этот препарат обычно назначают с аскорбиновой кислотой, поскольку он усиливает хелатирующий эффект дефероксамина. Из-за постоянного гемолиза у пациентов увеличивается потребление фолата. Таким образом показано длительное применение больших доз фолиевой кислоты.</span></li>\r\n</ul>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Эффективным методом лечения нескольких пациентов с тяжелым гемолизом является спленэктомия - хирургическое удаление селезенки. Другим хирургическим лечением для достижения полной ремиссии является аллотрансплантат гемопоэтических стволовых клеток. Однако этот метод используется редко, только в очень тяжелых случаях, так как он связан с высокой частотой смертей. При желчнокаменной болезни проводится холецистэктомия.</span></p>",
"prevention": "<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Первичная профилактика проводится среди семей с высоким риском развития гемоглобинопатий. Он состоит из пренатальной диагностики с прерыванием беременности по медицинским показаниям. Пациенты, страдающие от качественных нарушений гемоглобина, обязательно должны получить вакцину против гемофильной палочки, пневмококка, менингококка.</span></p>",
"clinical_picture": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Клиническая картина гемоглобинопатии разнообразна. Гетерозиготные пациенты протекают бессимптомно или слабо. Гомозиготные формы начинают появляться с раннего детства (6 месяцев - 1 год). Общие симптомы включают в себя симптомы гемолитической анемии (бледность, пожелтение кожи и слизистых оболочек, увеличение селезенки), патология скелета - черепная башня (четырехугольная), уплощенная переносица, изогнутый позвоночник.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Из-за повышенной секреции билирубина в желчи симптомы желчнокаменной болезни могут вызывать беспокойство уже в детстве - обострение или боль в правом подреберье, приступы желчной колики, обесцвечивание кала. Длительные незаживающие язвы часто появляются на коже ног. Для заболеваний с дефектом в структуре гемоглобина характерен криз. Наиболее серьезные судороги, часто со смертельным исходом, возникают при серповидно-клеточной анемии.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Ассоциированные симптомы: Билирубинурия. Боль в правом подреберье. Гемоглобинурия. Потливость. Протеинурия. Ретикулоцитоз. Тяжесть в подреберье. Цилиндрурия. Эритропения.</span></p>",
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"etiology": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Гемоглобинопатии относятся к аутосомно-рецессивным генетическим заболеваниям. Качественные гемоглобинопатии развиваются вследствие мутаций генов, ответственных за синтез определенных аминокислот в бета-цепи глобина. В результате происходит замена одной аминокислоты на другую (глутаминовой кислоты на валин, лизин и пр.). Это приводит к образованию аномального гемоглобина, гораздо менее растворимого, чем нормальный гемоглобин А, придающего красным кровяным тельцам иную форму (мишеневидную, серповидную), что нарушает их функции и уменьшает продолжительность жизни.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Количественные гемоглобинопатии обусловлены мутацией генов, которые кодируют целую цепь глобина (чаще альфа и бета). При этом сдвигается баланс между глобиновыми цепями – при недостаточном синтезе альфа-цепей возникает избыток бета-цепей, и наоборот. Уменьшаются размеры эритроцитов, в них снижается содержание гемоглобина, а мембрана становится более подверженной различным повреждениям.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Существуют факторы, провоцирующие тяжелые приступы (кризы). К ним относятся обезвоживание, переохлаждения, инфекции, сопровождающиеся высокой лихорадкой. У женщин обострения нередко развиваются на фоне беременности. Но главный патологический стимул качественных гемоглобинопатий – уменьшение концентрации в крови кислорода (гипоксия). Это может произойти, например, при подъеме на большую высоту (восхождение на гору, полет на самолете), где снижено парциальное давление кислорода воздуха, или при тяжелых болезнях дыхательной системы (пневмонии).</span></p>",
"pathogenesis": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Гемоглобинопатии имеют сходные патогенетические механизмы. Модифицированная структура гемоглобина предрасполагает к интенсивному гемолизу. Текущая длительная анемия способствует компенсаторной гиперплазии костного мозга. Появляется деформация костей черепа, искривление позвоночника. Развиваются экстрамедуллярные очаги кроветворения, что приводит к увеличению размеров печени и селезенки (гепатоспленомегалия). Из-за спленомегалии возникает гиперспленизм: повышенное разрушение эритроцитов синусоидами селезенки.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">И</span><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">з-за регулярного гемолиза эритроцитов печень выделяет большое количество билирубина в желчь, создавая условия для образования камней желчного пузыря. У пациентов с гемоглобинопатиями часто возникает перегрузка железом как в результате постоянных переливаний крови, так и из-за повышенной абсорбции железа желудочно-кишечным трактом. Большое количество железа в тканях улучшает процессы перекисного окисления липидов, которые повреждают различные органы.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">При высококачественных гемоглобинопатиях под влиянием пониженного содержания кислорода в крови аномальные нерастворимые молекулы гемоглобина растягивают мембрану эритроцита, что приводит к изменению его формы. Деформированные эритроциты переносят худший кислород и также могут прилипать к эндотелию сосудов, блокируя таким образом мелкие сосуды, вызывая тромбоз, окклюзию и сердечные приступы.</span></p>",
"diagnostics": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">При общем осмотре уделяется внимание цвету кожи (бледность, желтуха), нарушению конституции (задержка нервно-психического развития, физическое развитие ребенка, аномалии в строении скелета). Дополнительные тесты включают в себя: </span></p>\r\n<ul>\r\n<li><span style=\"font-size: 7pt; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Для общего анализа крови пациентов с высококачественными гемоглобинопатиями характерна типичная умеренная анемия, а для пациентов с количественными гемоглобинопатиями характерна тяжелая микроцитарная анемия. Мазок крови содержит измененные деформированные эритроциты (серповидные, сферические). При биохимическом анализе крови уровни свободного железа, ферритина и непрямого билирубина повышаются.</span></li>\r\n<li><span style=\"font-size: 7pt; font-family: Verdana; background-color: transparent; font-style: normal; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Электрофорез гемоглобина. Основной метод диагностики гемоглобиновой патологии, широко используемый в клинической гематологии, определяет соотношение фракции гемоглобина - мембранный электрофорез с ацетатом целлюлозы или агара лимонной кислоты. </span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Генетические исследования. ПЦР-тестирование ДНК проводится только в рамках пренатальной диагностики с целью генетического консультирования семей с повышенным риском развития патологий гемоглобина. Образцы ДНК получают амниоцентезом на 8-10 и 14-16 неделях беременности. Наличие мутаций различных генов определяется.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Инструментальные исследования. На рентгенограмме костей конечностей имеются признаки роста костного мозга - истончение кортикального слоя, зоны остеопороза, расширение канала костного мозга. На рентгенограмме костей черепа выявляется игольчатый периостоз («феномен волосатого черепа»). УЗИ брюшной полости выявляет гепатоспленомегалию, камни в желчном пузыре.</span></li>\r\n</ul>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p> </p>",
"treatment": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Подбор консервативной терапии производится с учетом типа гемоглобинопатии, течения заболевания, наличия определенных осложнений. Клинические симптомы и лабораторные данные (в основном, анализ крови) оцениваются. Различают следующие области лечения:</span></p>\r\n<ul>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Остановка кризисов. В случае вазоокклюзионных кризов используются анальгетики (нестероидные противовоспалительные препараты) и синдром сильной боли - наркотические анальгетики. Кроме того, для подавления деформации деформированных эритроцитов назначают ингаляции кислорода, оральную или внутривенную регидратацию.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Предотвращение кризисов. Для постоянного приема пациентов с качественными гемоглобинопатиями назначают гидроксимочевину. Это лекарство стимулирует образование внутриутробного гемоглобина, который подавляет экспрессию гена, ответственного за синтез аномальных нерастворимых гемоглобинов, что снижает склонность к деформации эритроцитов и снижает частоту кризов.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Терапия осложнений. Инфекционные осложнения лечат антибактериальными препаратами, которые эффективны против пневмококков, гемофильной палочки и менингококков до тех пор, пока не станут доступны результаты бактериологических исследований. Используются антибиотики из группы пенициллина (амоксициллин). Антикоагулянты (низкомолекулярный, нефракционированный гепарин) используются при развитии тромбоза. Поскольку у пациентов с количественной патологией гемоглобина всегда тяжелая анемия, основой лечения являются регулярные переливания крови. У людей с качественной гемоглобинопатией переливание крови проводится только во время секвестрации, гемолитического и апластического кризов.</span></li>\r\n<li><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Борьба с перегрузкой железом и дефицитом фолиевой кислоты. Хелатирующие агенты (дефероксамин) используются для удаления избытка железа из организма. Этот препарат обычно назначают с аскорбиновой кислотой, поскольку он усиливает хелатирующий эффект дефероксамина. Из-за постоянного гемолиза у пациентов увеличивается потребление фолата. Таким образом показано длительное применение больших доз фолиевой кислоты.</span></li>\r\n</ul>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Эффективным методом лечения нескольких пациентов с тяжелым гемолизом является спленэктомия - хирургическое удаление селезенки. Другим хирургическим лечением для достижения полной ремиссии является аллотрансплантат гемопоэтических стволовых клеток. Однако этот метод используется редко, только в очень тяжелых случаях, так как он связан с высокой частотой смертей. При желчнокаменной болезни проводится холецистэктомия.</span></p>",
"prevention": "<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Первичная профилактика проводится среди семей с высоким риском развития гемоглобинопатий. Он состоит из пренатальной диагностики с прерыванием беременности по медицинским показаниям. Пациенты, страдающие от качественных нарушений гемоглобина, обязательно должны получить вакцину против гемофильной палочки, пневмококка, менингококка.</span></p>",
"clinical_picture": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Клиническая картина гемоглобинопатии разнообразна. Гетерозиготные пациенты протекают бессимптомно или слабо. Гомозиготные формы начинают появляться с раннего детства (6 месяцев - 1 год). Общие симптомы включают в себя симптомы гемолитической анемии (бледность, пожелтение кожи и слизистых оболочек, увеличение селезенки), патология скелета - черепная башня (четырехугольная), уплощенная переносица, изогнутый позвоночник.</span></p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Из-за повышенной секреции билирубина в желчи симптомы желчнокаменной болезни могут вызывать беспокойство уже в детстве - обострение или боль в правом подреберье, приступы желчной колики, обесцвечивание кала. Длительные незаживающие язвы часто появляются на коже ног. Для заболеваний с дефектом в структуре гемоглобина характерен криз. Наиболее серьезные судороги, часто со смертельным исходом, возникают при серповидно-клеточной анемии.</span></p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 6.999999999999999pt; font-family: Verdana; color: #000000; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre-wrap;\">Ассоциированные симптомы: Билирубинурия. Боль в правом подреберье. Гемоглобинурия. Потливость. Протеинурия. Ретикулоцитоз. Тяжесть в подреберье. Цилиндрурия. Эритропения.</span></p>",
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"standard_type": 3,
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}
]
}
