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"code": "G90.2",
"name": "Синдром Горнера",
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"lead": "симптомокомплекс, обусловленный поражением симпатической нервной системы, проявляющийся офтальмологическими нарушениями, расстройствами потовыделения и тонуса сосудов на стороне поражения",
"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;\">Различают врождённую или приобретённую форму заболевания. Врожденный вариант возникает вследствие родовой травмы. Описаны случаи наследования окулосимпатического синдрома по аутосомно-доминантному типу, при этом признаки вовлечения в патологический процесс вегетативной нервной системы могут отсутствовать. Основные причины развития приобретенного варианта:</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;\">Ятрогенное вмешательство. Синдром Горнера – частое осложнение неправильной постановки дренажа по Бюлау. Симптомы также появляются после пересечения нервных волокон, блокады шейного сплетения или звездчатого ганглия в области грудной клетки или шеи.</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;\">Травматические повреждения. Заболевание нередко обусловлено тупой травмой основания шеи с поражением грудной или шейной симпатической нервной цепи. Клинические проявления наблюдаются на стороне, противоположной от зоны повреждения.</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;\">Отогенные патологии. Болезнь может возникать в результате распространения инфекции из полости среднего уха при отите. Этому способствует перфорация барабанной перепонки и лабиринтит в анамнезе.</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;\">Злокачественные новообразования. Сдавливание опухолью нервных волокон приводит к появлению клинической симптоматики синдрома Горнера. Наиболее частыми причинами являются опухоль Панкоста или бронхогенная карцинома верхушки лёгкого.</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;\">Неврологические болезни. Развитие патологии может быть связано с латеральным медуллярным синдромом, параличом Дежерин-Клюмпке или рассеянным склерозом. Реже этиологическим фактором становится сирингомиелия.</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;\">Сосудистые патологии. Распространённая причина синдрома Горнера – аневризма аорты. Локальные изменения на уровне артерий, кровоснабжающих зону поражения, также могут выступать в роле триггера.</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;\">Болезни щитовидной железы. Окулосимпатический синдром может возникать на фоне щитовидно-шейной венозной дилатации или зоба. Часто прослеживается взаимосвязь между проявлениями болезни и гиперплазией щитовидной железы.</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 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\"> </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\"> </p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>",
"pathogenesis": "<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;\">В основе развития заболевания лежит центральное, пре- или постганглионарное поражение симпатических нервных волокон. Из-за нарушения иннервации верхней тарзальной мышцы или мышцы Мюллера возникает классическое опущение верхних век или перевёрнутый птоз. Выраженность цилиоспинального рефлекса снижается. Патологическая пигментация меланоцитов, формирующих основу радужки, приводит к гетерохромии. Конъюнктива выглядит гиперемированной, что обусловлено расширением сосудов при параличе гладких мышц или патологии симпатической вазоконстрикторной реакции. Паралич или парез орбитальной мышцы глаза ведет к энофтальму. Симптоматика болезни развивается с противоположной стороны от зоны поражения.</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;\">Постановка диагноза базируется на результатах физикального осмотра и специальных методов исследования. При осмотре выявляется миоз, гетерохромия и западение глазного яблока на пораженной стороне. Реакция зрачков на свет вялая или не определяется. Основные методы диагностики:</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;\">Тест с оксамфетамином. Используется для установления причины миоза. Если третий нейрон не задействован, применение амфетамина ведёт к появлению стойкого мидриаза. В заключении указывают, на каком промежутке поврежден нервный путь.</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;\">Биомикроскопия глаза. Отмечается инъекция сосудов конъюнктивы. Прозрачность оптических сред глаза не снижена, структура радужки неоднородна. Может наблюдаться неравномерное распределение пигмента.</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;\">Тест на определение задержки расширения зрачка. При болезни Горнера птоз сочетается с суженным зрачковым отверстием. При поражении глазодвигательного нерва в результате исследования выявляется сочетание опущения века с мидриазом.</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 орбит. Исследование осуществляется для определения этиологии болезни. Компьютерная томография дает возможность визуализировать объемные образования глазницы и травматические повреждения органа зрения.</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 style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </p>\r\n<p> </p>\r\n<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </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 синдром Горнера происходит:</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;\">Посредством нейростимуляции – к пораженным мышцам или же участкам прикрепляются электроды, и короткими электрическими импульсами происходит стимуляция пораженных областей. Это приводит к лучшему их кровообращению и дальнейшему частичному или полному восстановлению.</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;\">Средствами пластической хирургии – проводится хирургическое вмешательство в пораженные области с целью пластической коррекции дискомфортных зон.</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;\">Медикаментозно – происходит деликатный подбор специализированных препаратов, предназначенных для стимуляции пораженных тканей лица. Данные медикаменты являются очень специфическими, и их подбор проводится исключительно специалистами. Поэтому самолечение не приведет к излечению от данной болезни. Нужно обращаться исключительно к компетентному лицу.</span></li>\r\n<li><span id=\"docs-internal-guid-4a186071-7fff-f07f-8924-7d0a111f4d18\"><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;\">Кинезотерапия — вид лечебных физических нагрузок. Данная методика использует различные массажи, позволяющие стимулировать пораженные участки посредством непосредственного физического контакта. Благодаря этому области получают должное кровообращение.</span></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 style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"> </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;\">Специфические превентивные меры не разработаны. Неспецифическая профилактика сводится к своевременной диагностике и лечению заболеваний ЛОР-органов и щитовидной железы, коррекции гормонального фона. Если клиническая картина болезни связана с объемными образованиями глазницы, пациенты должны состоять на диспансерном учете у офтальмолога. </span></p>",
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"code": "Q90",
"name": "Синдром Дауна",
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"lead": "Нарушение здоровья, относящееся к группе хромосомные аномалии, не классифицированные в других рубриках",
"description": "Геномная патология, при которой чаще всего кариотип (хромосомный набор) представлен 47 хромосомами вместо нормальных 46, поскольку хромосомы 21-й пары, вместо нормальных двух, представлены тремя копиями. Частота рождения детей с синдромом Дауна в среднем — 1 на 800 детей. Это наиболее часто диагностируемый хромосомный синдром.",
"etiology": "<p>- возраст матери старше 35 лет и младше 18 лет.</p>\r\n<p> Так, у женщины до 25 лет вероятность родить ребенка с синдромом Дауна по статистике составляет 1:1400, к 35 годам — 1:400, к 40 годам — 1:100, к 45 годам — 1:35. Такая градация возникает из-за того, что с возрастом снижается контроль за процессом деления клеток и повышается риск нерасхождения хромосом. Существуют данные, по которым возраст отца старше 42 лет также повышает риск возникновения данной патологии у детей;</p>\r\n<p>- наличие в семье лиц с синдромом Дауна.</p>\r\n<p>Если у одного из однояйцевых близнецов имеется данная патология, то у другого она будет в 100% случаев. Однако у разнояйцевых близнецов, а также братьев или сестер, вероятность возникновения невысокая;</p>\r\n<p>- близкородственные браки (наименее распространенная причина);</p>\r\n<p>- носительство транслокации одним из супругов;</p>\r\n<p>- случайное событие, нарушающие нормальное развитие половых клеток.</p>\r\n<p> </p>",
"pathogenesis": "<p>В геноме человека присутствует 23 пары хромосом: 22 пары аутосомных хромосом и одна пара половых хромосом Х и У (последние определяют пол будущего ребенка). Причина развития синдрома Дауна заключается в количественном нарушении хромосом, когда к 21-ой хромосоме присоединяется дополнительный генетический материал. Таким образом, кариотип представляет собой 47 хромосом вместо обычных 46, так как хромосомы 21 пары представлены тремя, а не двумя, как должно быть, копиями.</p>\r\n<p>Появление такой дополнительной хромосомы может быть обусловлено генетической случайностью, нарушением клеточного деления уже после оплодотворения либо наследованием генетической мутации от матери или отца. В генетике различают три варианта аномалии кариотипа при синдроме Дауна: трисомию, мозаицизм, транслокацию и дупликацию 21-й хромосомы.</p>\r\n<p>В 95% случаев патология возникает вследствие простой трисомии (кариотип 47,XX, 21+ или 47,ХY, 21+). При этом происходит нерасхождение хромосом во время мейоза (в 88% случаев из-за материнских гамет), в результате чего возникает гамета с 24 хромосомами. При слиянии с нормальной гаметой противоположного пола образуется зигота с 47 хромосомами, а не 46-ю, как без трисомии.</p>\r\n<p>Около 1-2% случаев синдрома Дауна приходится на мозаичную форму, которая обусловлена нерасхождением в клетке зародыша на ранних стадиях его развития, в результате чего нарушение кариотипа затрагивает только некоторые ткани и органы. Данный вариант развития синдрома Дауна называется «мозаичный синдром Дауна» (46, XX/47, XX, 21). Данная форма синдрома является, как правило, более лёгкой.</p>\r\n<p>Транслокационная форма синдрома Дауна встречается у 2-3% пациентов. В данном случае длинное плечо 21-й хромосомы прикреплено к плечу другой хромосомы — чаще всего 14-й [45, XX, der (14; 21) (q10; q10)]). Фенотип у человека с робертсоновскими транслокациями соответствует норме. Во время репродукции нормальный мейоз повышает шанс на трисомию 21-й хромосомы и рождения ребёнка с синдромом Дауна. Транслокации с синдромом Дауна часто называют семейный синдром Дауна.</p>\r\n<p>Очень редко участки 21-й хромосомы могут быть удвоены в результате хромосомной перестройки. При этом возникают дополнительные копии некоторых, но не всех генов из 21-й хромосомы. Если продублируются фрагменты, обусловливающие физические и психологические проявления синдрома Дауна, то ребёнок родится с этим синдромом. Такие хромосомные перестройки происходят крайне редко, и не существует оценки периодичности данного явления.</p>\r\n<p> </p>\r\n<p> </p>\r\n<p> </p>",
"diagnostics": "<p>Для дородового выявления синдрома Дауна у плода предложена система пренатальной диагностики. Скрининг I триместра проводится на сроке беременности 11-13 недель и включает выявление специфических УЗИ-признаков аномалии и определение уровня биохимических маркеров (ХГЧ, РАРР-А) в крови беременной. Между 15 и 22 неделями беременности выполняется скрининг II триместра: акушерское УЗИ, анализ крови матери на альфа-фетопротеин, ХГЧ и эстриол. С учетом возраста женщины рассчитывается риск рождения ребенка с синдромом Дауна (точность - 56-70%; ложноположительные результаты - 5%).</p>\r\n<p>Беременным из группы риска по рождению ребенка с синдромом Дауна предлагается прохождение пренатальной инвазивной диагностики: биопсии хориона, амниоцентезаили кордоцентеза с кариотипированием плода и консультация медицинского генетика. При получении данных за наличие у ребенка синдрома Дауна решение вопроса о пролонгации или прерывании беременностиостается за родителями.</p>\r\n<p>Новорожденным с подозрением на синдром Дауна проводится исследование кариотипа. В первые дни жизни детям назначают ЭхоКГ (УЗИ сердца), УЗИ брюшной полости для раннего выявления врожденных пороков развития внутренних органов; также требуется консультация у детского кардиолога, детского хирурга, детского офтальмолога, детского травматолога-ортопеда.</p>\r\n<p> </p>",
"treatment": "<p>Излечение хромосомной аномалии на сегодняшний день невозможно. Однако систематическое медицинское наблюдение и педагогическая помощь детям с синдромом Дауна позволяют добиться успехов в их развитии, социализации и приобретении ими трудовых навыков.</p>\r\n<p>На протяжении всей жизни больные с синдромом Дауна должны находиться под наблюдением специалистов (педиатра, терапевта, кардиолога, эндокринолога, отоларинголога, офтальмолога, невролога и др.) в связи с сопутствующими заболеваниями или повышенным риском их развития. При выявлении тяжелых врожденных пороков сердца и ЖКТ показана их ранняя хирургическая коррекция. В случае выраженного снижения слуха производится подбор слухового аппарата. При патологии органа зрения может потребоваться очковая коррекция, хирургическое лечение катаракты, глаукомы, косоглазия. При гипотиреозе назначается заместительная терапия тиреоидными гормонами.</p>\r\n<p>Для стимуляции развития моторных навыков показана физиотерапия, занятия ЛФК. Для развития речевых и коммуникативных навыков лечение должно включать занятия с логопедом, психолого-педагогическую поддержку и курсы реабилитации.</p>\r\n<p>Обучение детей с синдромом Дауна, как правило, осуществляется в специальной коррекционной школе, однако в рамках интегрированного образования такие дети могут посещать и обычную массовую школу. Во всех случаях дети с синдромом Дауна относятся к категории детей с особыми образовательными потребностями, поэтому нуждаются в дополнительной помощи учителей и социальных педагогов, использовании специальных образовательных программ, создании благоприятной и безопасной среды.</p>\r\n<p> </p>",
"prevention": "<p>Профилактика болезни Дауна заключается в проведении медико-генетической консультации родителей из группы риска с целью определения степени риска рождения больного ребенка. Для профилактики пороков развития нервной системы плода женщине с самого начала беременности назначаются фолиевая кислота и поливитаминные препараты.</p>",
"clinical_picture": "<p>Вынашивание плода с синдромом Дауна с повышенным риском самопроизвольного прерывания беременности — у 30% женщин на сроке 6-8 недель. В остальных случаях дети рождаются доношенными. </p>\r\n<p>Большинству детей с синдромом Дауна свойственны типичные внешние признаки, что позволяет заподозрить патологию при первом осмотре новорожденного неонатологом. Так, 80-90% детей имеют черепно-лицевые дизморфии: уплощенное лицо, уменьшенные ушные раковины (<3 см вертикальной длины у новорожденных), брахицефалию, короткую широкую шею, плоский затылок, характерную кожную складку на шее. Лицо отличается монголоидным разрезом глаз, наличием эпикантуса (вертикальной складки кожи, прикрывающей внутренний угол глаза), микрогенией, полуоткрытым ртом с толстыми губами и макроглоссией (большим высунутым языком). При осмотре также выявляются белые пятна по краю радужки — пятна Брушфильда, готическое (аркообразное) нёбо. Это сочетается с генерализованной мышечной гипотонией, гипермобильностью суставов (в том числе атланто-аксиальной нестабильностью), деформацией грудной клетки (воронкообразная или килевидная). </p>\r\n<p>Характерны короткие конечности, клинодактилия мизинцев кисти с единственной сгибательной складкой на ладонях и мизинцах кисти. Из врождённых пороков развития специфичны атрезия двенадцатиперстной кишки, кольцевидная поджелудочная железа и дефекты межжелудочковой перегородки сердца. Реже встречается болезнь Гиршпрунга и врождённый гипотиреоз. Практически всегда у детей с синдромом Дауна отмечают дефицит интеллектуального развития — как правило умственная отсталость лёгкой и средней степени. Моторное развитие детей с синдромом Дауна отстает от сверстников; имеет место системное недоразвитие речи.</p>\r\n<p>Пациенты с синдромом Дауна склонны к развитию ожирения, запоров, гипотиреоза, гнездной алопеции, рака яичка, раннему началу болезни Альцгеймера. Мужчины с синдромом Дауна, как правило, бесплодны; фертильность женщин заметно снижена ввиду ановуляторных циклов. Рост взрослых больных обычно на 20 см ниже среднего. Продолжительность жизни составляет около 50-60 лет.</p>\r\n<p> </p>",
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},
"code": "E24",
"name": "Синдром Иценко-Кушинга",
"icd_name": "Синдром Иценко-Кушинга",
"gender": 0,
"age_min": 0,
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"cause": [
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],
"periodicity": 1,
"slug": "e24_sindrom_icenko-kushinga",
"lead": "сочетание клинических симптомов, вызванных хроническим повышением уровня кортизола или родственных ему кортикостероидов в крови",
"description": "",
"etiology": "<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 причины синдрома Иценко-Кушинга — повышенная выработка гормонов корой надпочечников. Чаще всего причиной такой аномалии становится опухоль, которая продуцирует избыточное количество АКТГ. Опухоль может образоваться в различных органах, чаще в бронхолегочной системе, реже — в мочеполовой. Повышенный синтез АКТГ влияет на функции надпочечниковых желез, которые начинают в усиленных количествах выделять глюкокортикоиды. Кроме этого, опухоль может образоваться в коре надпочечников, и в этом случае также будет наблюдаться повышенный синтез глюкокортикоидов. К повышению содержания в организме глюкокортикоидных гормонов могут привести ожирение, беременность, злоупотребление алкоголем в течение длительного времени, ряд психических заболеваний. Состояние, возникающее в результате воздействия перечисленных факторов, называют псевдо синдромом Кушинга.</span></p>\r\n<p><span><span> </span></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;\">Еще одной причиной развития является продолжительная терапия аутоиммунных заболеваний с применением больших дозировок препаратов, содержащих глюкокортикоидные гормоны.</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>",
"pathogenesis": "<p style=\"line-height: 1.38; margin-top: 0pt; margin-bottom: 0pt;\" dir=\"ltr\"><span style=\"font-size: 7.5pt; font-family: Verdana; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Гиперсекреция кортизола при синдроме Иценко-Кушинга вызывает катаболический эффект - распад белковых структур костей, мышц (в том числе и сердечной), кожи, внутренних органов и т. д., со временем приводя к дистрофии и атрофии тканей. Усиление глюкогенеза и всасывания в кишечнике глюкозы вызывает развитие стероидной формы диабета. Нарушения жирового обмена при синдроме Иценко-Кушинга характеризуется избыточным отложением жира на одних участках тела и атрофией на других ввиду их разной чувствительности к глюкокортикоидам. Влияние избыточного уровня кортизола на почки проявляется электролитными расстройствами – гипокалиемией и гипернатриемией и, как следствие, повышением артериального давления и усугублением дистрофических процессов в мышечной ткани. В наибольшей степени от гиперкортицизма страдает сердечная мышца, что проявляется в развитии кардиомиопатии, сердечной недостаточности и аритмий. Кортизол оказывает угнетающее действие на иммунитет, вызывая у пациентов с синдромом Иценко-Кушинга склонность к инфекциям.</span></p>\r\n<p><span style=\"font-size: 7.5pt; font-family: Verdana; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\"> </span></p>",
"diagnostics": "<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;\">Диагностика синдрома Иценко-Кушинга включает:</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;\">Анализ мочи на определение суточного выделения свободного кортизола.</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;\">Дексаметазоновые пробы: малая и большая. Малая проба заключается в поэтапном определении показателя кортизола в крови до приема глюкокортикостероида и после приема. В качестве препарата используется дексаметазон – гормональное средство с антигистаминным и противовоспалительным эффектом. После приема дексаметазона концентрация кортизола в норме снижается в два раза и более. При заболевании уровень кортизола повышается либо остается неизменным. Большая дексаметазоновая проба проводится аналогично, разница только в дозе медикаментов. Цель – дифференциальная диагностика синдрома Иценко-Кушинга и определение его конкретного вида.</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;\">МР-томография головного мозга для исключения гипофизарной аденомы.</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;\">Компьютерное или магнитно-резонансное обследование надпочечников.</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;\">Рентгенологические методы диагностики позволяют выявить осложнения болезни, компрессионные переломы позвоночного столба.</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;\">Анализ крови общий и биохимия крови для выявления сахарного диабета стероидного генеза и электролитных нарушений.</span></li>\r\n</ul>\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>",
"treatment": "<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;\">При ятрогенной (лекарственной) природе синдрома Иценко-Кушинга необходима постепенная отмена глюкокортикоидов и замена их на другие иммунодепрессанты. При эндогенной природе гиперкортицизма назначаются препараты, подавляющие стероидогенез (аминоглютетимид, митотан).</span></p>\r\n<p><span><span> </span></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;\">При наличии опухолевого поражения надпочечников, гипофиза, легких проводится хирургическое удаление новообразований, а при невозможности – одно- или двусторонняя адреналэктомия (удаление надпочечника) или лучевая терапия гипоталамо-гипофизарной области. Лучевую терапию часто проводят в комбинации с хирургическим или медикаментозным лечением для усиления и закрепления эффекта.</span></p>\r\n<p><span><span> </span></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;\">Симптоматическое лечение при синдроме Иценко-Кушинга включает применение гипотензивных, мочегонных, сахароснижающих препаратов, сердечных гликозидов, биостимуляторов и иммуномодуляторов, антидепрессантов или седативных средств, витаминотерапию, лекарственную терапию остеопороза. Проводится компенсация белкового, минерального и углеводного обмена. Послеоперационное лечение пациентов с хронической надпочечниковой недостаточностью, перенесших адреналэктомию, состоит в постоянной заместительной гормональной терапии.</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>",
"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;\">В целях профилактики синдрома Иценко-Кушинга для недопущения необратимых последствий, необходимо регулярно проходить скрининговые тесты и наблюдаться у специалистов, не работать на вредном производстве, особенно в ночные смены, избегать физических нагрузок. </span></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;\">Симптомы синдрома Иценко-Кушинга следующие:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Ожирение — отложение жировой ткани происходит в верхней части тела, конечности при этом остаются худыми.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Появление на коже багрово-розовых полос вследствие распада коллагена и перерастяжения ее жиром.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Нарушение цикла у женщин, развитие бесплодия.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Образование на локтях и в кожных складках пигментных пятен, акне, появление избыточного количества волос на теле.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Снижение либидо и эректильная дисфункция у мужчин.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Прогрессирующий остеопороз и, как следствие, переломы костей.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Снижение иммунной защиты организма, что вызывает развитие инфекционных заболеваний кожного покрова и ряда других органов.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Сердечная аритмия, артериальная гипертензия.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Нарушение углеводного обмена и развитие стероидного диабета.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Слабость мышц (в том числе и миокарда), возникающая в результате распада белков.</span></span></li>\r\n</ul>\r\n<p><span> </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;\">При заболевании нарушается глюкогенез. Избыточное количество глюкозы всасывается кишечником, что приводит к развитию стероидного диабета. Нарушение липидного обмена проявляется в виде жировых отложений в одних зонах тела и атрофии других участков из-за разницы в чувствительности органов и тканей к глюкокортикоидам. Нарушение электролитного обмена проявляется гипокалиемией (пониженное содержание калия в крови) и гипернатриемией (повышенная концентрация натрия в крови). При этом может развиваться гипертоническая болезнь, непроходимость кишечника, мочекаменная болезнь, дыхательные расстройства, слабость.</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: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">Наиболее серьезное осложнение синдрома Иценко-Кушинга — это нарушение работы миокарда. При дисфункции сердечной мышцы развивается аритмия, декомпенсированная сердечная недостаточность, кардиомиопатия. Также гиперкортизолизм угнетает иммунитет, поэтому больные с синдромом Иценко-Кушинга склонны к инфекционным заболеваниям, фурункулезу, грибковым поражениям кожи. </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: 7pt; font-family: Verdana; background-color: transparent; font-variant-numeric: normal; font-variant-east-asian: normal; vertical-align: baseline; white-space: pre-wrap;\">В тяжелых случаях развивается:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Инсульт.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Параличи и парезы.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Пиелонефрит.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Декомпенсированная почечная недостаточность.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-family: Verdana; font-size: 7pt; white-space: pre-wrap;\">Сепсис.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Остеопороз, характеризующийся множественными переломами.</span></span></li>\r\n<li><span id=\"docs-internal-guid-a6472c3c-7fff-df19-005a-9ad9901b77fb\"><span style=\"background-color: transparent; font-size: 7pt; white-space: pre-wrap; font-family: Verdana;\">Симпатоадреналовый криз (рвота, гипотензия, спутанность сознания, боль в животе, ацидоз).</span></span></li>\r\n</ul>",
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"code": "X28",
"name": "Синдром Леша-Нихена",
"icd_name": "Синдром Леша-Нихена",
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0
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"lead": "Это наследственное заболевание у лиц мужского пола, проявляющееся симптомами поражения центральной нервной системы (ЦНС).",
"description": "Женский организм выступает носителем генетических нарушений, которые передает их из поколения в поколение, но сам не страдает.",
"etiology": "<p>Наследственная болезнь обмена веществ, обусловленная дефицитом фермента гипоксантин-фосфорибозилтрансферазы.</p>",
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"diagnostics": "<ul class=\"list list-description\">\r\n<li>Синдром Леша-Нихена очень тяжело обнаружить на ранних этапах развития заболевания (так как очень мало специфических, характерных именно для данного заболевания симптомов).</li>\r\n<li>Наличие трех основных синдромов может служить поводом для постановки диагноза:\r\n<ul class=\"list list-description-2\">\r\n<li>неврологический синдром (повышение тонуса мышц, подергивания в форме непроизвольных движений и судорог, патологические рефлексы);</li>\r\n<li>поведенческие нарушения (самоукусы, агрессия, направленная на окружающих и предметы быта);</li>\r\n<li>синдром повышения уровня мочевой кислоты в крови (определение мочевой кислоты в анализах мочи и крови, наличие крови в моче, спонтанное воспаление суставов, формирование камней в почках).</li>\r\n</ul>\r\n</li>\r\n</ul>\r\n<ul class=\"list list-description\">\r\n<li>Решающее значение имеет генетическое исследование.</li>\r\n</ul>\r\n<p>План обследования таких пациентов:</p>\r\n<ul class=\"list list-description\">\r\n<li>общий анализ мочи и крови;</li>\r\n<li>биохимический анализ крови с определением уровня мочевой кислоты;</li>\r\n<li>ультразвуковое исследование почек;</li>\r\n</ul>",
"treatment": "<ul class=\"list list-description\">\r\n<li>Снижение уровня мочевой кислоты (препараты, снижающие уровень мочевой кислоты).</li>\r\n<li>Удаление камней в почках медикаментозными и хирургическими методиками.</li>\r\n<li>Применение нестероидных противовоспалительных препаратов (НПВС) при воспалении суставов.</li>\r\n<li>Симптоматическое лечение неврологических расстройств в зависимости от преобладания того или иного симптома.</li>\r\n</ul>",
"prevention": "",
"clinical_picture": "<p>Симптомы заболевания вызваны одним генетическим нарушением, однако условно их можно разделить на три основные группы.<br /><br />Со стороны центральной нервной системы (ЦНС):</p>\r\n<ul class=\"list list-description\">\r\n<li>судорожный синдром (чаще всего это судороги отдельных групп мышц);</li>\r\n<li>повышенный мышечный тонус;</li>\r\n<li>непроизвольные подрагивания конечностей (гиперкинезы);</li>\r\n<li>выраженное отставание в развитии (например, позднее начало ходьбы);</li>\r\n<li>частая рвота без связи с другими причинами;</li>\r\n<li>нарушения речи (нечеткая, невнятная речь);</li>\r\n<li>могут встречаться эпилептические припадки;</li>\r\n<li>могут быть параличи обеих верхних или нижних конечностей (параплегии);</li>\r\n<li>отставание в умственном развитии.</li>\r\n</ul>\r\n<p>Симптомы, связанные с обменными нарушениями:</p>\r\n<ul class=\"list list-description\">\r\n<li>постоянное желание пить и выделение большого количества мочи за сутки;</li>\r\n<li>камни в почках;</li>\r\n<li>воспаление суставов (артрит), чаще мелких суставов стоп;</li>\r\n<li>скопления мочевой кислоты в мочках ушей (тофусы);</li>\r\n<li>появление оранжевых кристаллов (кристаллов мочевой кислоты) в моче.</li>\r\n</ul>\r\n<p>Поведенческие расстройства:</p>\r\n<ul class=\"list list-description\">\r\n<li>необычно беспокойное поведение ребенка;</li>\r\n<li>эмоциональная лабильность (быстрая смена настроения по незначительным причинам) с преобладанием агрессивности;</li>\r\n<li>после появления зубов дети склонны к самоповреждению (укусы губ, пальцев рук, расчесы на коже) – характерный признак данного заболевания.лабиль</li>\r\n</ul>",
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