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"code": "X28",
"name": "Синдром Леша-Нихена",
"icd_name": "Синдром Леша-Нихена",
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0
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"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>",
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"code": "X28",
"name": "Синдром Леша-Нихена",
"icd_name": "Синдром Леша-Нихена",
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"age_min": 0,
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0
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"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>",
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