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”10.21508/1027-4065-2021-66-1-106-112perinatology-1346Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙСиндром Донна–Барроу в практике нефрологаDonnai–Barrow syndrome in nephrology practicehttps://orcid.org/0000-0002-3699-1884АксеноваМ. Е.AksenovaM. E.

Аксенова Марина Евгеньевна – кандидат медицинских наук, ведущий научный сотрудник отдела наследственных и приобретенных болезней почек, врач-нефролог консультативно-диагностического отделения 

125412 Москва, ул. Талдомская, д. 2

Moscow

maksyonova@pedklin.ruhttps://orcid.org/0000-0002-8166-2449ЗайковаН. М.ZaikovaN. M.

Зайкова Наталия Михайловна – кандидат медицинских наук, врач-нефролог отдела наследственных и приобретенных болезней почек 

125412 Москва, ул. Талдомская, д. 2

Moscow

zaikovan@pedklin.ruhttps://orcid.org/0000-0003-2967-5530ЛепаеваТ. В.LepaevaT. V.

Лепаева Татьяна Викторовна – кандидат медицинских наук, врач-нефролог отдела наследственных и приобретенных болезней почек 

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0002-3050-7748ДлинВ. В.DlinV. V.

Длин Владимир Викторович – доктор медицинских наук, и.о. дир., руководитель отдела наследственных и приобретенных болезней почек им. профессора М.С. Игнатовой 

125412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian Federation202129032021661106112Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “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/1346

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Cиндром Донна–Барроу – мультисистемное заболевание, характеризующееся вариабельным сочетанием врожденных пороков развития, прогрессирующей миопии, нейросенсорной тугоухости, нарушения интеллекта и патологии почек. В статье представлены собственные клинические наблюдения за детьми с синдромом Донна–Барроу, имевшими разный фенотип заболевания, в том числе разные варианты патологии почек. В одном случае пациент имел изолированную низкомолекулярную протеинурию, во втором – протеинурию, гиперкальциурию, нефрокальциноз. Нарушение опосредованного мегалином эндоцитоза, ретроградного эндосомального транспорта лигандов, дисфункция митохондрий, стресс эндоплазматического ретикулума могут приводить к разному спектру и разной степени выраженности тубулярной дисфункции при синдроме Донна–Барроу. Разнообразие клинических проявлений заболевания может обусловливать низкую диагностику синдрома Донна–Барроу и неадекватное ведение пациентов.

Donnai–Barrow syndrome is a multi-system disorder characterized by a variable combination of congenital anomalies, progressive myopia, sensorineural hearing loss, intellectual disability and renal disease. The article describes clinical cases of children with different phenotypes of the syndrome, including different renal disorders. One patient had isolated low-molecular-weight proteinuria, another patient suffered from proteinuria, hypercalciuria, nephrocalcinosis. Disruption of megaline-mediated endocytosis, retrograde endosomal transport of ligands, mitochondrial dysfunction, stress of the endoplasmic reticulum can lead to a different spectrum and various degrees of severity of tubular dysfunction in Donnai-Barrow syndrome. A variety of clinical manifestations of the disease can lead to a low diagnosis of Donnai-Barrow syndrome and inadequate patient management.

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