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”10.21508/1027-4065-2022-67-2-121-126perinatology-1628Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESНефронофтиз вследствие мутации гена TMEM67Nephronophthisis due to mutation in the TMEM67 genehttps://orcid.org/0000-0002-8753-1415АндрееваЭ. Ф.AndreevaE. F.

Андреева Эльвира Фаатовна — к.м.н., доц. кафедры факультетской педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2

 

Saint Petersburg

A-Elvira@yandex.ruhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна — д.м.н., проф., зав. кафедрой факультетской педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2

Saint Petersburg

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSaint Petersburg State Pediatric Medical UniversityRussian Federation202210062022672121126Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20222022Ltd. “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/1628

Актуальность проблемы обусловлена высокой распространенностью и клинической гетерогенностью наследственных кистозных заболеваний почек. В условиях фенотипического разнообразия нефронофтиза и связанных с ним синдромов, для которых в большинстве случаев характерен аутосомно-рецессивный тип наследования, необходима диагностика генотипа, что позволяет персонализировать выбор лечебных воздействий с учетом индивидуальных (генетических) особенностей заболевания у конкретного пациента.

Представлен обзор литературы по особенностям клинического фенотипа и генотипа нефронофтиза и связанных с ним синдромов, развившихся вследствие мутации гена TMEM67 (синдром Meckel–Gruber-3, синдром Bardet–Biedl-14, синдром Joubert-6, синдром COACH-1, синдром RHYNS). На примере пробанда с пренатально выявленными кистами почек, нефрогенной артериальной гипертонией с рождения продемонстрированы особенности течения и диагностики нефронофтиза-11 вследствие мутации гена TMEM67. Трудности дифференциального диагноза у пациентов при отрицательном семейном анамнезе подтверждают важность проведения молекулярно-генетического исследования.  

The urgency of the problem is due to the prevalence and clinical heterogeneity of hereditary cystic kidney diseases. The phenotypic diversity of nephronophthisis and nephronophthisis-related syndromes, which in most cases are characterized by an autosomal recessive type of inheritance, suggests the necessity of genotype diagnosis to personalize the choice of therapeutic means, taking into account the individual (genetic) characteristics of the disease in a particular patient. The article provides a review of the literature on the characteristics of the clinical phenotype and genotype of nephronophthisis and nephronophthisis-related syndromes that developed as a result of mutations in the TMEM67 gene (Meckel—Gruber 3 syndrome, Bardet—Biedl 14 syndrome, Joubert 6 syndrome, COACH 1 syndrome, RHYNS syndrome). On the example of a proband with prenatally identified renal cysts and nephrogenic arterial hypertension (AH) from birth, the features of the course and diagnosis of nephronophthisis-11 due to mutations in the TMEM67 gene were demonstrated. Difficulties in differential diagnosis in patients with a negative family history confirm the importance of molecular genetic testing.

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