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”10.21508/1027-4065-2016-61-1-56-63perinatology-21Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESКлинический полиморфизм синдрома Олгрова (синдром «трех А») у детей, возможности ранней диагностики и подходы к терапииClinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapyТозлиянЕ. В.TozliyanE. V.

к.м.н., вед. научн. сотр. лаборатории общей патологии, эндокринолог

СухоруковВ. С.SukhorukovV. S.

д.м.н., проф., руководитель лаборатории общей патологии

ЗахароваЕ. Ю.ZakharovaE. Yu.

д.м.н., руководитель лаборатории генетики наследственных болезней обмена веществ

ХарабадзеМ. Н.KharabadzeM. N.

к.м.н., зав. отделением психоневрологии и наследственных заболеваний с поражением ЦНС и нарушением психики у детей

ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, MoscowRussian FederationФГБНУ «Медико-генетический научный центр» РАМН, МоскваРоссияResearch Center for Medical Genetics, Russian Academy of Medical Sciences, MoscowRussian Federation2016010320166115663Copyright © 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/21

Представлены данные литературы, отражающие проявления, вопросы диагностики и методы лечения редкого наследственного заболевания – синдрома Олгрова у детей. Подчеркнуты основные трудности при проведении дифференциального диагноза и установлении истинного диагноза этого тяжелого заболевания. Представлены собственные клинические наблюдения. Особое внимание уделено клинической симптоматике заболевания и методам диагностики, среди которых наиболее значима ДНК-диагностика. У пробандов выявлены мутации в гене AAAS: в одном случае описанная в международной базе данных по мутациям HGMD (CM 10151) мутация с.856 С>Т ( p.Arg286Term) в гомозиготном состоянии; в другом случае – изменение нуклеотидной последовательности с.709 delC, не описанное в базах данных по мутациям и полиморфизмам, приводящее к преждевременной терминации белка. Показана недостаточная информированность клиницистов о синдроме Олгрова и важность междисциплинарного подхода.

The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and treatments of the rare inherited disease Allgrove syndrome in children. Emphasis is placed on major difficulties in the differential and true diagnosis of this severe disease. The authors describe their clinical cases. Particular emphasis is laid on the clinical symptoms of the disease and on its diagnostic methods, among which the DNA diagnosis is of most importance. The probands were found to have mutations in the AAAS gene: in one case there was a mutation (c.856 C> T, p.Arg286Term) in homozygous state, which is described in the International Human Mutation Database (CM 10151); in other case there was a change in nucleotide sequence (c.709 delC), which is undescribed in the mutation and polymorphism databases and which leads to premature termination of the protein. It is shown that awareness of Allgrove syndrome among clinicians is low and the interdisciplinary approach is of importance.

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