PharmatecaPharmatecaФарматека2073-40342414-9128Bionika Media69376010.18565/pharmateca.2025.7.163-168Clinical caseКлинический разборResearch ArticleClinical case of ROHHAD syndrome in pediatric practiceКлинический случай синдрома ROHHAD в практике педиатраhttps://orcid.org/0000-0002-7533-3489IshbuldinaAnastasia V.ИшбулдинаАнастасия В.
Russian Federation

Cand. Sci. (Med.), Assistant, Department of Hospital Pediatrics

к.м.н., ассистент кафедры госпитальной педиатрии

ishbuldinakgmu@mail.ruhttps://orcid.org/0000-0001-9339-2354VakhitovKhakim M.ВахитовХаким Муратович
Russian Federation

Dr. Sci. (Med.), Professor, Department of Hospital Pediatrics

д.м.н., профессор кафедры госпитальной педиатрии

vhakim@mail.ruhttps://orcid.org/0000-0003-0501-405XSabirovaDina R.СабироваДина Р.
Russian Federation

Cand. Sci. (Med.), Assistant, Department of Hospital Pediatrics

к.м.н., доцент кафедры госпитальной педиатрии

dinasabirova@mail.ruhttps://orcid.org/0000-0002-7557-7467KarpovaOlga A.КарповаОльга А.
Russian Federation

Head of Pulmonology Department, Pediatrician

зав. отделения пульмонологии, врач-педиатр

karpova80@mail.ruShaimardanovaGulnara R.ШаймардановаГульнара Р.
Russian Federation

Pediatrician of Pulmonology Department

врач-педиатр отделения пульмонологии

shaymardanova_gr@mail.ruKazan State Medical University, Department of Hospital PediatricsКазанский государственный медицинский университет, кафедра госпитальной педиатрииChildren’s Republican Clinical Hospital of the Ministry of Health of the Republic of TatarstanДетская республиканская клиническая больница Министерства здравоохранения Республики Татарстан071120253271631681810202518102025Copyright ©; 2025, Bionika MediaCopyright ©; 2025, ООО «Бионика Медиа»2025Bionika MediaООО «Бионика Медиа»https://journals.eco-vector.com/2073-4034/article/view/693760

The article is devoted to the demonstration of a clinical case of ROHHAD syndrome in a 5-year-old child.

ROHHAD is an abbreviation that stands for and translates as rapidly progressive obesity with hypothalamic dysregulation, hypoventilation and autonomic dysfunction. The first clinical case of ROHHAD syndrome (formerly known as Late-Onset Central Hypoventilation Syndrome (LO-CHS) with Hypothalamic Dysfunction), a central hypoventilation syndrome with late onset and hypothalamic dysfunction, was described in the American Journal of Pediatrics in 1965.

According to the ROHHAD association, 100 cases of the disease have been reported worldwide. The etiology and pathogenesis of this disease are still not fully understood, to date, three main etiopathogenetic hypotheses have been put forward: genetic, epigenetic and autoimmune. Treatment of ROHHAD syndrome is currently only symptomatic. Patients receive hormone replacement therapy, water-electrolyte balance correction, and respiratory support.

Статья посвящена демонстрации клинического случая ROHHAD синдрома у ребенка 5 лет.

ROHHAD – аббревиатура, которая расшифровывается и переводится как «быстро прогрессирующее ожирение (rapid-onsetobesity) с гипоталамической дисрегуляцией (hypothalamic dysregulation), гиповентиляцией (hypoventilation) и вегетативной дисфункцией (autonomic dysfunction). Первое клиническое наблюдение синдрома ROHHAD (ранее известный как Late-Onset Central Hypoventilation Syndrome (LO-CHS) with Hypothalamic Dysfunction) – центральный синдром гиповентиляции с поздним дебютом и гипоталамической дисфункцией) описано в американском педиатрическом журнале за 1965 г.

По данным ROHHAD association, в мире зарегистрировано 100 случаев заболевания. Этиология и патогенез данного заболевания все еще остаются до конца не изученными, на сегодняшний день были выдвинуты три основные этиопатогенетические гипотезы: генетическая, эпигенетическая и аутоиммунная. Лечение синдрома ROHHAD на сегодняшний день – только симптоматическое. Пациентам проводится заместительная гормональная терапия, коррекция водно-электролитного баланса и обеспечивается респираторная поддержка.

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