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”10.21508/1027-4065-2016-61-3-76-80perinatology-328Research ArticleНЕФРОЛОГИЯНЕФРОЛОГИЯГендерные особенности клинических проявлений и поражения сердечно-сосудистой системы при Х-сцепленном варианте синдрома АльпортаGender characteristics of the clinical manifestations of cardiovascular system involvement in X-linked Alport syndromeГрозноваО. С.GroznovaO. S.

д.м.н., вед.н.с. отдела детской кардиологии и аритмологии

Moscow

ДлинВ. В.DlinV. V.

д.м.н., проф., рук. того же отдела, зам.директора по научной работе

Moscow

ШагамЛ. И.ShagamL. I.

научный сотрудник НИЛ общей патологии

Moscow

ШенцеваД. В.ShentsevaD. V.

аспирант

Moscow

КоньковаН. Е.KonkovaN. E.

к.м.н., зав. отделением нефрологии,

125412 Москва, ул.Талдомская, д.2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава РФРоссияAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian FederationRussian Federation2016020720166137680Copyright © 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/328

Приводится клиническое наблюдение семьи, в которой у пяти членов семьи (4 женщины и 1 мужчина) была выявлена новая миссенс-мутация c. 3098G>A, p.(1033D) в гене α5-цепи коллагена IV типа (COL4A5), ответственного за развитие Х-сцепленной формы синдрома Альпорта. При этом у всех четырех носительниц отмечено поражение почек с раннего возраста (с 3 лет): усугубляющееся с возрастом снижение скорости клубочковой фильтрации до 78 мл/мин, протеинурия до 2 г/сут, артериальная гипертензия и дилатация аорты (на уровне кольца, синусов и восходящей аорты). Один мужчина в данной семье умер в 33 года от почечной недостаточности (ДНК-диагностика не проведена). У второго мужчины 26 лет с установленной мутацией в клинической картине – протеинурия до 2,5 г/л, персистирующая гематурия до 100 эритроцитов в поле зрения, снижение скорости клубочковой фильтрации до 50 мл/мин, нейросенсорная тугоухость и сердечно-сосудистые аномалии (дилатация левого желудочка, дилатация кольца, синусов и восходящей аорты, аортальная регургитация 2-й степени, стабильная артериальная гипертензия).

The paper describes a clinical case of a family, in which its 5 members (4 women and 1 man) were found to have the new missence mutation c. 3098G>A, p.(1033D) in the gene encoding the α5-chain of type IV collagen (COL4A5) responsible for the development of X-linked Alport syndrome. At the same time, all the four female carriers were observed to have had kidney injury since infancy (at the age of 3 years), an age progressive glomerular filtration rate reduction to 78 ml/min; proteinuria up to 2 g/day; hypertension, and aortic dilatation (at the level of the ring, sinuses, and ascending aorta). In this family, one man aged 33 years had died from renal failure (DNA diagnosis was not made). The second 26-year-old man with the documented mutation in the clinical picture had proteinuria up to 2.5 g/l, persistent hematuria up to 100 red blood cells in the field of vision; a glomerular filtration rate decrease to 50 ml/min; sensorineural deafness, and cardiovascular abnormalities (dilatation of the left ventricle, ring, sinuses, and ascending aorta; aortic regurgitation, 2 cm; and stable hypertension).

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