nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2026-30-1-44-55CJLXFXnefr-2521Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИ. КЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯORIGINAL ARTICLES. CLINICAL INVESTIGATIONSНаследственные подоцитопатии с нефротическим синдромом у педиатрических пациентов: особенности клинического фенотипа, мутаций генов и патогенезаHereditary podocitopathies with nephrotic syndrome in pediatric patients: features of the clincal phenotype, mutations genes and pathogenesishttps://orcid.org/0009-0002-8890-4487БатраковД. Д.BatrakovD. ­ D.

Батраков Денис Дмитриевич, кафедра факультетской педиатрии

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

Тел: (812)4165286

Denis D. Batrakov MD, Department of Faculty Pediatrics

194100, Saint-Petersburg, Litovskaya str., 2

denissvoy@mail.ruhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Проф. Савенкова Надежда Дмитриевна, д-р мед наук, кафедра факультетской педиатрии – заведующая кафедрой

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

 Тел.: (812)4165286

Prof. Nadezhda D. Savenkova, MD, PhD, DMedSci, Head of the Department of Faculty Pediatrics

194100, Saint-Petersburg, Litovskaya str., 2

Phone: (812)4165286

savenkova.n.spb@mail.ruБарсуковаВ. Н.BarsukovaV. N.

Барсукова Вера Николаевна, нефрологическое отделение клиники университета, врач-педиатр

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

Тел.: (812)4165301

Vera N. Barsukova, MD, pediatrician nephrologists of First Pediatric Unit of the University Clinic

194100, Saint-Petersburg, Litovskaya str., 2

Phone:(812)4165266

 

barsukova-med@yndex.ruhttps://orcid.org/0000-0003-0518-0445ЛюбимоваО. В.LyubimovaO. V.

Любимова Ольга Викторовна, нефрологическое отделение клиники университета, заведующая отделением

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

Тел.: (812)4165301

Olga V. Lubimova, MD, Head of the Nephrology Unit of the University Clinic

194100, Russia, Saint -Petersburg, Litovskaya st. 2

Phone: (812) 4165301

ovl1312@gmail.ruhttps://orcid.org/0009-0004-9832-6435СнежковаЕ. А.SnezhkovaE. A.

Снежкова Елена Александровна, нефрологическое отделение, врач-педиатр

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

Elena A. Snezkova, pediatrician, nephrologists of the Nephrology Unit of the University Clinic

194100, Saint -Petersburg, Litovskaya st. 2

Phone: (812) 4165301

ovl1312@gmail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2026090320263014455Copyright © Батраков Д.Д., Савенкова Н.Д., Барсукова В.Н., Любимова О.В., Снежкова Е.А., 20262026Батраков Д.Д., Савенкова Н.Д., Барсукова В.Н., Любимова О.В., Снежкова Е.А.Batrakov D.D., Savenkova N.D., Barsukova V.N., Lyubimova O.V., Snezhkova E.A.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/2521ЦЕЛЬ

ЦЕЛЬ: выявить особенности клинического фенотипа, генотипа и патогенеза нефротического синдрома (НС) при подоцитопатиях вследствие мутаций генов, кодирующих структурные и функциональные протеины эпителиальных подоцитарных клеток клубочкового фильтра.

ПАЦИЕНТЫ И МЕТОДЫ

ПАЦИЕНТЫ И МЕТОДЫ: В исследование включены 24 педиатрических пациента (от 6 мес до 17 лет) с наследственными подоцитопатиями с НС, из них 15 (62,5 %) мальчиков и 9 (37,5 %) девочек. Применены клинические, биохимические, визуализирующие и молекулярно-генетические методы диагностики. Стратификация тяжести хронической болезни почек (ХБП) проведена в соответствии с классификацией K/DOQI (2002).

РЕЗУЛЬТАТЫ

РЕЗУЛЬТАТЫ: Из 24 пациентов с НС обнаружены мутации: моногенные – у 19 (79,2 %), дигенные – у 3 (12,5 %), тригенные – у 2 (8,3 %). У 24 детей с идентифицированными вариантами мутаций генов NPHS2 (4), PLCE1 (3), WT(3), PTPRO(1), СОQ6 (1), NUP93(2), NUP205(1), NUP85(1), KANK2(1), MYO1E (1), TRPC6(3), PAX2 (1), SGPL1 (1), DAAM2 (1) охарактеризованы особенности патогенеза и клинического фенотипа, функции почек при наследственной подоцитопатии с НС.

ЗАКЛЮЧЕНИЕ Установлены особенности клинического фенотипа, вариантов мутаций генов и патогенеза, почечного прогноза НС у 24 детей с подоцитопатиями. Из 21 пациента более 2 лет с наследственной подоцитопатией с НС (20) и без НС (1) констатированы ХБП С1 с нормальной СКФ у 16 (76,2 %), прогрессирование в ХБП С5 – у 5 (23,8 %). Из 5 пациентов два получают терапию гемолиализом, у 3 с мутациями NPHS2, PLCE1, WT, функционирующий почечный трансплантат. Из 3 грудных детей с врожденным НС констатированы сохранная функция почек (1) и ОПП, полиорганная недостаточность, летальный исход (2).

BACKGROUND

BACKGROUND. The relevance of the pediatric problem of hereditary podocytopathy in children is due to the peculiarities of the age at which the clinical phenotype of NS manifests with typical histology of focal segmental glomerulosclerosis (FSGS) or diffuse mesangial sclerosis (DMS), less often minimal changes (MC) due to variants of gene mutations and pathogenesis, with a high frequency of steroid resistance and the risk of progression to the end-stage chronic kidney disease (CKD) already in childhood. THE AIM: to identify the characteristics of the clinical phenotype, genotype, and pathogenesis of nephrotic syndrome (NS) in podocytopathies caused by mutations in genes encoding structural and functional proteins of epithelial podocyte cells of the glomerular filtration barrier.

PATIENTS AND METHODS

PATIENTS AND METHODS: The study included 24 pediatric patients (aged 6 months to 17 years) with hereditary podocytopathies accompanied by NS, including 15 boys (62.5 %) and 9 girls (37.5 %). Clinical, biochemical, imaging, and molecular genetic diagnostic methods were used. The severity of chronic kidney disease (CKD) was stratified according to the K/DOQI classification (2002). RESULTS: Among 24 patients with NS, monogenic mutations were identified in 19 (79.2 %), digenic mutations in 3 (12.5 %), and trigenic mutations in 2 (8.3 %). In 24 children with identified pathogenic variants in the genes NPHS2 (4), PLCE1 (3), WT (3), PTPRO (1), COQ6 (1), NUP93 (2), NUP205 (1), NUP85 (1), KANK2 (1), MYO1E (1), TRPC6 (3), PAX2 (1), SGPL1 (1), and DAAM2 (1), the features of pathogenesis, clinical phenotype, and renal function in hereditary podocytopathy-associated NS were characterized.

CONCLUSION

CONCLUSION: Distinct features of the clinical phenotype, gene mutation variants, pathogenesis, and renal prognosis of NS were identified in 24 children with podocytopathies. Among 21 patients older than 2 years with hereditary podocytopathy with NS (20) and without NS (1), CKD stage C1 with normal glomerular filtration rate was observed in 16 (76.2 %), while progression to CKD stage C5 occurred in 5 (23.8 %). Of these 5 patients, two are receiving maintenance hemodialysis, and three patients with mutations in NPHS2, PLCE1, and WT have a functioning renal transplant. Among three infants with congenital NS, preserved renal function was observed in one case, while acute kidney injury, multiple organ failure, and fatal outcome were reported in two cases.

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