CLINICAL CASE OF SUCCESSFUL REHABILITATION OF A CHILD WITH UNDINE SYNDROME (CCHS-CONGENITAL CENTRAL HYPOVENTILATION SYNDROME, ONDINE SYNDROME, OMIM 209880)

Abstract

Grechanina Yu., Bugaeva E., Biletska S.

The article describes the case of the combination of an orphan monogenic disease (Undine syndrome) with a violation of the methylation cycle (epigenetic status) and mitochondrial dysfunction. Correction of concomitant metabolic disorders has allowed to improve the quality of life of the child.

Key words: Undine syndrome, synthropy, methylation, mitochondrial dysfunction

 

 КЛІНІЧНИЙ СПОСІБ УСПІШНОЇ РЕАБІЛІТАЦІЇ ДИТИНИ З СИНДРОМОМ УНДІНИ (ВРОДЖЕНИЙ ЦЕНТРАЛЬНИЙ ГІПОВЕНТИЛЯЦІЙНИЙ СИНДРОМ, СИНДРОМ УНДІНИ, ОМІМ 209880)

Гречаніна Ю., Бугаєва О., Білецька С.

У статті описаний випадок поєднання орфанного моногенного захворювання (синдром Ундини) з порушенням циклу метилювання (епігенетичного статусу) і мітохондріальної дисфункції. Корекція супутніх обмінних порушень дозволила поліпшити якість життя дитини.

Ключові слова: синдром Ундини, сінтропія, метилювання, мітохондріальна дисфункція

 

КЛИНИЧЕСКИЙ СПОСОБ УСПЕШНОЙ РЕАБИЛИТАЦИИ РЕБЕНКА С СИНДРОМОМ УндинЫ (ВРОЖДЕННЫЙ ЦЕНТРАЛЬНЫЙ ГИПОВЕНТИЛЯЦИОННЫЙ СИНДРОМ, СИНДРОМ УНДИНЫ, ОМИМ 209880)

Гречанина Ю., Бугаева О., Билецкая С.

        В статье описан случай сочетания орфанного моногенного заболевания (синдром Ундины) с нарушением цикла метилирования (эпигенетического статуса) и митохондриальной дисфункции. Коррекция сопутствующих обменных нарушений позволила улучшить качество жизни ребёнка.

Ключевые слова: синдром Ундины, синтропия, метилирование, митохондриальная дисфункция

https://doi.org/10.35339/ic.4.2.91-95
PDF

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