nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2021-25-3-28-35nefr-1972Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESОрфанное заболевание – FRASER синдром (ORPHA:2052) у детей: характеристика фенотипа и генотипаOrpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristicshttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliJ. G.

Левиашвили Жанна Гавриловна, д-р мед. наук , проф., кафедра факультетской педиатрии

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

Тел.: (812) 416-52-86

Zhanna. G. Leviashvili MD, PhD, DMedSci Affiliations, Prof., Department of faculty pediatrics, professor

194100, St-Petersburg, Litovskaya str., 2. 

 Phone: (812) 416-52-86

Jannalevi@gmail.comhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна, д-р мед. наук, проф., зав. кафедрой факультетской педиатрии

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

Тел.: (812) 416-52-86

Nadezhda D. Savenkova MD, PhD, DMedSci Affiliations, Prof., Head of the Department of faculty pediatrics

194100,  St-Petersburg, litovskaya str., 2

Phone: (812) 416-52-86

Savenkova.n.spb@mail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg Pediatric Medical AcademyRussian Federation2021220420212532835Copyright © Левиашвили Ж.Г., Савенкова Н.Д., 20212021Левиашвили Ж.Г., Савенкова Н.Д.Leviashvili J.G., Savenkova N.D.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/1972

Fraser синдром (OMIM#219000; ORPHA:2052; МКБ-10: Q87.0) – орфанное заболевание с аутосомно-рецессивным типом наследования, характеризуется аномалиями развития глаз, почек, гортани, ушей, костной системы (криптофтальмом, синдактилией, аномалиями почек, урогенитального тракта, респираторной системы).В статье представлены современные данные литературы о фенотипических и генотипических особенностях Fraser синдрома, ведения пациентов с новыми возможностями генетической диагностики и лечения. Синдром, описанный D. Fraser в 1962 году, обусловлен мутациями в генах FRAS1, FREM2и GRIP.Диагноз фенотипа Fraser синдрома устанавливают при наличии основных критериев (криптофтальм, синдактилия, аномалии органов мочевой и дыхательной системы, гениталий, семейный анамнез, указывающий на близкородственный брак) и второстепенных (врожденные пороки развития носа и ушей, дефекты окостенения черепа, аноректальные аномалии, пупочная грыжа и др.).Молекулярно-генетическое исследование доказывает редкое заболевание, требует генетического консультирования. Ведение пациентов осуществляется совместно с офтальмологом, отоларингологом, сурдологом, нефрологом, урологом, челюстно-лицевым хирургом и другими специалистами.

Fraser syndrome (OMIM # 219000; ORPHA: 2052; ICD-10: Q87.0) is a rare, disease with an autosomal recessive type of inheritance is characterized by abnormalities in the development of the eyes, kidneys, larynx, ears, and bone systems (cryptophthalmos, syndactyly, abnormalities of the kidneys, urogenital tract, and respiratory system). The article presents current literature data on the phenotypic and genotypic features of Fraser syndrome, the management of patients with new opportunities for genetic diagnosis and treatment. The syndrome, described by D. Fraser in 1962, is caused by mutations in the FRAS1, FREM2, GRIP genes. The diagnosis of the Fraser syndrome phenotype is established in the presence of the main criteria (cryptophthalmos, syndactyly, abnormalities of the urinary and respiratory system, genitals, family history indicating a closely related marriage) and secondary (congenital malformations of the nose and ears, skull ossification defects, anorectal abnormalities, umbilical hernia, etc.). Molecular genetic testing proves a rare disease, requires genetic counseling. The management of patients is carried out jointly by an ophthalmologist, an otolaryngologist, an audiologist, a nephrologist, a urologist, a maxillofacial surgeon and other specialists.

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