perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-152Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSСиндром БартаBarth syndromeЛеонтьеваИ. В.LeontyevaI. V.

д.м.н., проф.. гл.н.с. отдела патологии сердечно-сосудистой системы Научно-исследовательского клинического института педиатрии

БелозеровЮ. М.BelozerovYu. M.

д.м.н., проф., гл.н.с. того же отдела

НиколаеваЕ. А.NikolaevaE. A.

д.м.н., гл.н.с. отдела психоневрологии и наследственных заболеваний того же учреждения 125412 Москва, ул. Талдомская, д. 2

ОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваРоссияResearch Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, MoscowRussian Federation2015130320166053341Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/152

Синдром Барта является Х-сцепленным рецессивным заболеванием, которое характеризуется кардиомиопатией, скелетной миопатией, задержкой роста, нейтропенией и увеличенным содержанием в моче 3-метилглутаконовой кислоты. Синдром Барта был впервые описан как болезнь митохондрий, приводящая к нейтропении, а также скелетной и сердечной миопатии. Более глубокое понимание патогенеза заболевания связано с разработкой его основных генетических механизмов. Мутации в гене TAZ (Xq28) приводят к потере его функции, нарушению структуры кардиолипина и отвечают за фенотип синдрома Барта. Пациенты подвержены угрожающей жизни бактериальной инфекции и сепсису вследствие нейтропении; развивающаяся сердечная недостаточность обусловлена кардиомиопатией, синдромом некомпактного миокарда. Тактика ведения больных в последние годы претерпела изменения, что привело к повышению продолжительности их жизни.

Barth syndrome is an X-linked recessive disease characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutro-penia, and 3-methylglutaconic aciduria. The Barth syndrome was first described as a mitochondrial disease leading to neutropenia and skeletal and cardiac myopathy. A deeper insight into the pathogenesis of the disease is associated with the development of its main genetic mechanisms. Mutations in the TAZ gene (Xq28) give rise to a loss of its function and to abnormalities in the cardiolipin structure and are responsible for the phenotype of Barth syndrome. Patients are susceptible to life-threatening bacterial infection and sepsis due to neutropenia; evolving heart failure is caused by cardiomyopathy, non-compact myocardium syndrome. Patient management tactics have recently undergone changes, resulting in longer survival.

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The authors declare that there are no conflicts of interest present.