Синдром ROHHAD: современные представления о редком заболевании детского возраста

ROHHAD-синдром (Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction, and Autonomic Dysregulation) представляет собой жизнеугрожающее мультисистемное заболевание детского возраста с высокой летальностью, оцениваемой в 50–60%. Клиническая картина характеризуется триадой ключевых признаков: быстрым развитием ожирения в интервале от 1,5 до 7 лет, центральной альвеолярной гиповентиляцией и комплексной гипоталамической дисфункцией, включающей центральный гипотиреоз, гиперпролактинемию, расстройства водно-электролитного обмена, дефицит гормона роста, надпочечниковую недостаточность и нарушения пубертатного развития. Признаки вегетативной дисрегуляции часто сопутствуют данной триаде. Важной ассоциированной патологией является развитие опухолей нервного гребня, преимущественно ганглионевром и ганглионейробластом, которые выявляются примерно у половины пациентов. Эпидемиологические характеристики синдрома ROHHAD окончательно не установлены, и его распространенность в популяции остается неизвестной. Ввиду отсутствия специфических лабораторных или генетических маркеров диагностика основывается исключительно на клинических критериях, что существенно затрудняет распознавание заболевания и способствует поздней диагностике или гиподиагностике. Ранняя верификация диагноза критически важна с учетом высокого риска жизнеугрожающих осложнений и летального исхода при отсутствии своевременного вмешательства. Этиопатогенез ROHHADсиндрома остается неясным; ведущей считается гипотеза об аутоиммунной природе заболевания, на что указывает частичный ответ на иммуносупрессивную терапию. В условиях отсутствия этиотропного лечения терапевтическая стратегия носит мультидисциплинарный поддерживающий характер. Таким образом, ROHHAD остается заболеванием с множеством нерешенных вопросов в отношении патогенеза, диагностики и терапии, что подчеркивает необходимость дальнейших исследований. В обзорной статье рассматриваются ключевые аспекты синдрома ROHHAD, включая предполагаемую этиологию, особенности клинической картины, подходы к диагностике, тактику лечения и прогноз. Поиск и анализ публикаций выполнялись в базах данных PubMed, Google Scholar и eLIBRARY.

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