nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2023-27-4-100-108RPLGFRnefr-2273Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИPRACTICAL NOTESРазвитие стероидрезистентного нефротического синдрома у ребёнка с CAKUT-синдромомDevelopment of steroid-resistant nephrotic syndrome in a child with CAKUT-syndromehttps://orcid.org/0000-0002-8166-2449ЗайковаН. М.ZaikovaN. M.

Зайкова Наталья Михайловна - доктор медицинских наук НИКИПДХ им. акад. Ю.Е. Вельтищева Российского НИМУ им. Н.И. Пирогова Минздрава России, отдел наследственных и приобретённых болезней почек им. М.С. Игнатовой.

125412, Москва, ул. Талдомская, д. 2. Тел.: (964) 5299049

Natalia M. Zaikova - MD, PhD, DMedSci; Research Clinical Institute of Pediatrics and Pediatric Surgery. acad. Yu.E. Veltishchev RNRMU. N.I. Pirogov, Department of Hereditary and Acquired Kidney Diseases named after M. S. Ignatova.

125412, Moscow, st. Taldomskaya, 2. Phone: (964) 5299049

nataliazaikova@mail.ruhttps://orcid.org/0000-0002-7237-3178МихалковаД. Ю.MikhalkovaD. Yu.

Михалкова Дарья Юрьевна - Клинический институт детского здоровья им. Н.Ф. Филатова, Первый Московский ГМУ имени И.М. Сеченова, кафедра детских болезней.

119992, Москва, ул. Трубецкая, д. 8, стр. 2. Тел.: (495) 6229771

Clinical resident Daria - Yu. Mikhalkova MD, Clinical Institute of Children's Health. N.F. Filatov, Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow SMU of the Ministry of Health of the Russian Federation (Sechenov University), Department of Children's Diseases,

119992, Moscow, 8-2, st. Trubetskaya. Phone: (495) 6229771

darmymed@yandex.ruhttps://orcid.org/0000-0002-3050-7748ДлинВ. В.DlinV. V.

Профессор Длин Владимир Викторович - доктор медицинских наук НИКИПДХ им. акад. Ю.Е. Вельтищева РИМУ им. Н.И. Пирогова Минздрава России, отдел наследственных и приобретённых болезней почек им. М.С. Игнатовой, руководитель отдела.

125412, Москва, ул. Талдомская, д. 2. Тел.: (916) 6343453

Prof. Vladimir V. Dlin - MD, PhD, DMedSci; Research Clinical Institute of Pediatrics and Pediatric Surgery. acad. Yu.E. Veltishchev RNRMU. N.I. Pirogov, Department of Hereditary and Acquired Kidney Diseases named after M.S. Ignatova Head of the Department.

125412, Moscow, st. Taldomskaya, 2. Phone: (916) 6343453

vdlin@pedklin.ruhttps://orcid.org/0000-0001-9030-3192СмирноваА. В.SmirnovaA. V.

Младший научный сотрудник Смирнова Анна Викторовна - НИКИПДХ им. акад. Ю.Е. Вельтищева РИМУ им. Н.И. Пирогова, лаборатория клинической геномики и биоинформатики.

125412, Москва, ул. Талдомская, д. 2. Тел.: (999) 8082045

Junior researcher Smirnova Anna V.- Research Clinical Institute of Pediatrics and Pediatric Surgery. acad. Yu.E. Veltishchev RNRMU. N.I. Pirogov of the Ministry of Health of Russia, Lab of clinical genomics and bioinformatics.

125412, Moscow, st. Taldomskaya, 2. Phone: (999) 8082045

dudko.a@pedklin.ruНаучно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева, Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияResearch Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltischev, N.I. Pirogov Russian National Research Medical UniversityRussian FederationКлинический институт детского здоровья им. Н.Ф. Филатова, Первый Московский государственный медицинский университет имени И.М. Сеченова (Сеченовский Университет)РоссияN.F. Filatov Clinical Institute of Children's Health, I. M. Sechenov First Moscow State Medical University (Sechenov University)Russian Federation202302122023274100108Copyright © Зайкова Н.М., Михалкова Д.Ю., Длин В.В., Смирнова А.В., 20232023Зайкова Н.М., Михалкова Д.Ю., Длин В.В., Смирнова А.В.Zaikova N.M., Mikhalkova D.Y., Dlin V.V., Smirnova A.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/2273ВВЕДЕНИЕ

ВВЕДЕНИЕ. Одним из врожденных аномалий развития почек и мочевыводящих путей (CAKUT) является почечная гиподисплазия/аплазия, тип 3 (ПГДА3), вызываемая патогенными вариантами в гене GREB1L, ранее не ассоциированными с развитием стероидрезистентного нефротического синдрома (СРНС). В исходе ПГДА3 формируется хроническая болезнь почек (ХБП). Варианты гена UMOD, ассоциированные с аутосомно-доминантной тубулоинтерстициальной болезнью почек (АДТБП-UMOD), также приводят к развитию ХБП. Ассоциация генов GREB1L и UMOD с развитием СРНС ранее не описывалась.

ЦЕЛЬ

ЦЕЛЬ: представить редкий клинический случай развития СРНС у ребенка с CAKUT-синдромом.

ПАЦИЕНТЫ И МЕТОДЫ

ПАЦИЕНТЫ И МЕТОДЫ. Пациентка с CAKUT-синдромом в виде ПГДА3 и АДТБП-UMOD наблюдается в отделении нефрологии в течение 2 лет. Постинфекционное развитие СРНС потребовало пересмотра генетического обследования.

РЕЗУЛЬТАТЫ

РЕЗУЛЬТАТЫ. При пересмотре генетического обследования у пациентки обнаружена вариабельность генов, вызывающих развитие CAKUT-синдрома, при этом гены-кандидаты СРНС отсутствуют.

ЗАКЛЮЧЕНИЕ

ЗАКЛЮЧЕНИЕ. Продемонстрированное клиническое наблюдение отличается полиморфизмом клинической картины тяжёлого CAКUT-синдрома и вариабельностью вариантов генов UMOD и GREB1L, не ассоциированных с развитием СРНС, что свидетельствует об инфекционной этиологии СРНС. У пациентки наблюдается интенсивное развитие ХБП 4 стадии, требующее продолжительного наблюдения в динамике.

BACKGROUND

BACKGROUND. One of the congenital anomalies of the kidneys and urinary tracts (CAKUT) is renal hypodysplasia/aplasia type 3 (PHDA3), caused by pathogenic variants in the GREB1L gene not associated with steroid-resistant nephrotic syndrome (SRNS). PGDA3 leads to chronic kidney disease (CKD). Variants in the UMOD gene associated with autosomal dominant tubulointerstitial kidney disease (ATKD-UMOD) also lead to CKD. The association of the GREB1L/UMOD genes with SRNS has not been previously described.

THE AIM

THE AIM: to demonstrate a rare clinical case of SRNS in a child with CAKUT-syndrome.

PATIENTS AND METHODS

PATIENTS AND METHODS. A patient with CAKUT in the form of PGDA3 and ADTBP-UMOD is observed in the department of nephrology for 2 years. Post-infectious development of SRNS required a revision of the genetic screening.

RESULTS

RESULTS. On the whole-genome sequencing were found a variability in the genes that cause CAKUT, with no candidate genes for SRNS.

CONCLUSION

CONCLUSION. The described case stands out with clinical polymorphism of CAKUT and the variability of UMOD and GREB1L gene variants not associated with the development of SRNS. Infectious etiology of the development of SRNS is assumed. The patient has an intensive development of CKD stage 4, requiring a long-term follow-up in dynamics.

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