medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.05.40-44medgen-3453Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEКлинический случай врожденной хронической болезни почек с синдромом Поттера, обусловленного мутацией в гене WT1A clinical case of congenital chronic kidney disease with Potter syndrome caused by mutations in the WT1 geneДроздовГ. В.DrozdovG. V.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10 Naberezhnaya R. Ushayki, Tomsk, 634050

drozdov.gleb@medgenetics.ruНИИ медицинской генетики Томского НИМЦРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center (Tomsk NRMC)Russian Federation2026080620262554044Copyright © Дроздов Г.В., 20262026Дроздов Г.В.Drozdov G.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3453

Представлено описание клинического случая с редким фенотипом в виде синдрома Поттера, который стал следствием внутриутробного развития терминальной стадии почечной недостаточности. У пробанда был обнаружен и верифицирован редкий возникший de novo миссенс вариант в гене WT1(NM_024426.6):c.1400G>A (p.Arg467Gln) в гетерозиготном состоянии. Данный клинический случай является третьим зарегистрированным в мировой литературе и первым в Российской Федерации пациентом с синдромом Поттера, обусловленным выявленным генетическим вариантом. По совокупности имеющихся данных можно предположить о более раннем начале нефротического синдрома у пациентов с зафиксированной у пробанда мутацией. 

This paper describes a clinical case of a rare phenotype, Potter syndrome, resulting from the intrauterine development of end-stage renal failure. A rare, de novo missense variant in the WT1 gene WT1(NM_024426.6):c.1400G>A (p.Arg467Gln)  was detected and verified in the proband in a heterozygous state. This clinical case is the third patient with Potter syndrome associated with this genetic variant reported in the world literature and the first in the Russian Federation. Based on the available data, it is possible to suggest an earlier onset of nephrotic syndrome in patients with the mutation identified in the proband. 

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