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},
"code": "X28",
"name": "Синдром Леша-Нихена",
"icd_name": "Синдром Леша-Нихена",
"gender": 0,
"age_min": 0,
"age_max": 100,
"cause": [
0
],
"periodicity": 4,
"slug": "x28_sindrom_lesha-nihena",
"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>",
"pathogenesis": "",
"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>",
"image": null,
"image_alt": null,
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"danger": 6,
"published": 1,
"parent": 6278,
"block_rubric": 246,
"standards": []
},
{
"id": 9813,
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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},
{
"name": "У ребенка болит живот"
},
{
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},
{
"name": "Резь в животе"
},
{
"name": "Боль под ложечкой"
},
{
"name": "Боль после еды"
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{
"name": "Боль при аппендеците"
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"lead": "Боль в животе может быть признаком многих заболеваний, если боль появилась внезапно или продолжительная, обратитесь к врачу",
"image": null,
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{
"id": 2613,
"synonyms": [
{
"name": "Спленомегалия "
}
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},
"code": "E78.5",
"name": "Гиперлипидемия неуточненная",
"icd_name": "Гиперлипидемия неуточненная",
"gender": 0,
"age_min": 40,
"age_max": 100,
"cause": [
"0"
],
"periodicity": 1,
"slug": "e78.5_giperlipidemiya_neutochnennaya",
"lead": "патологическое состояние, которое проявляется нарушением содержания триглицеридов и липопротеинов в крови",
"description": "<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;\">Гиперлипидемией называют состояние организма, при котором наблюдается избыточное содержание определенных жиров в крови, что чревато развитием атеросклероза и сосудистых осложнений. В конечном итоге гиперлипидемия может привести к развитию ишемии, тромбозов или даже инфаркту.</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;\">Первичные причины:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Генетические причины (генные мутации, в результате которых организм вырабатывает слишком большое количество холестерина ЛПНП или триглицеридов или не может удалить эти вещества, либо недостаточная выработка или чрезмерное удаление холестерина ЛПВП)</span></p>\r\n</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\"><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;\">Вторичные причины:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Малоподвижный образ жизни с избыточным потреблением насыщенных жиров, холестерина и транс-жиров</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Наличие сахарного диабета</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Употребление большого количества алкоголя</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Наличие хронической болезни почек</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Наличие гипотиреоза</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Наличие первичного билиарного цирроза</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">Прием некоторых препаратов</span></p>\r\n</li>\r\n</ul>",
"pathogenesis": "",
"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;\">С учетом причины заболевания и имеющихся симптомов врач может назначить следующие виды обследования:</span></p>\r\n<ul style=\"margin-top: 0; margin-bottom: 0; padding-inline-start: 48px;\">\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">анализ крови на определение уровня глюкозы натощак;</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">анализ крови печеночные ферменты, креатинин;</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">анализы крови для определения уровней холестерина;</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">анализ крови на липидный профиль натощак;</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">анализ крови на тиреотропный гормон (ТТГ);</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">определение белка в моче;</span></p>\r\n</li>\r\n<li style=\"list-style-type: disc; font-size: 8pt; font-family: Verdana; color: #556677; background-color: transparent; font-weight: 400; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline; white-space: pre;\" dir=\"ltr\">\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;\">скрининг на факторы сердечно-сосудистого заболевания (повышенное артериальное давление, диабет или семейный анамнез высоких уровней липидов).</span></p>\r\n</li>\r\n</ul>",
"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;\">Применяется дифференцированный подход к лечению, учитывающий степень гиперлипидимии и наличие органических изменений сердечно-сосудистой системы. Людям, у которых нет клинических симптомов, рекомендовано начинать со специальной диеты. Липидонормализующий рацион предполагает снижение жира до 30% от суточной калорийности, соблюдение соотношения насыщенных и ненасыщенных жиров. Немедикаментозные мероприятия снижают уровень холестерина на 5-10%.</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;\">Безотлагательное назначение медикаментозных гиполипидемических препаратов показано пациентам с имеющимися сердечно-сосудистыми болезнями либо с высокой вероятностью их развития по шкале SCORE. Предполагается длительный или пожизненный прием лекарств для эффективной коррекции липидов в сыворотке крови. С этой целью используют следующие группы препаратов:</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;\">Статины. Основные лекарственные средства, которые помимо прямого влияния на метаболизм липидов оказывают сосудорасширяющее и противовоспалительное действие. Прием препаратов уменьшает риск смертности от кардиальных причин на 30%, предотвращает развитие хронической сердечной недостаточности.</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;\">Фибраты. Снижают уровень триглицеридов, повышают показатели антиатерогенной фракции ЛПВП. Фибраты замедляют прогрессирование коронарного атеросклероза и на 23% уменьшают риск сердечно-сосудистых осложнений.</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;\">Секвестранты желчных кислот. Назначаются в основном для снижения показателя общего холестерина в плазме крови. Клиническая эффективность секвестрантов реализуется в комбинации с диетой и другими гиполипидемическими средствами.</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 других групп. Для коррекции гиперлипидемий применяют современные лекарственные формы никотиновой кислоты, полиненасыщенные жирные кислоты, ингибиторы абсорбции холестерина. Подбирается индивидуальная схема терапии, соответствующая состоянию здоровья больного.</span></li>\r\n</ul>\r\n<p> </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>",
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}
]
}
