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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>",
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"prevention": "",
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}
]
}