nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2025-29-3-77-86MNIOQRnefr-2456Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИ. КЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯORIGINAL ARTICLES. CLINICAL INVESTIGATIONSКлинические и генотипические особенности, почечный прогноз орфанных тубулопатий с нефрокальцинозом и цистиновыми конкрементами у детейClinical and genotypic features, renal prognosis of orphan tubulopathies with nephrocalcinosis and cystin stones in childrenhttps://orcid.org/0000-0002-7998-2849ПрокофьеваМ. О.ProkofevaM. O.

Асс. Прокофьева (Амирян) Маргарита Оганесовна, кафедра факультетской педиатрии

194100, Санкт-Петербург, Литовская, д. 2

Тел.: (812) 416-52-66

Assistant Margarita O. Prokofi eva (Amiryan), MD, Department of faculty pediatrics

194100, St-Petersburg, Litovskaya st.,2

Phone: (812) 416-52-66

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

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

194100, Санкт-Петербург, Литовская, д. 2

Тел.: (812) 416-52-66

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

194100, St-Petersburg, Litovskaya st.,2

Phone: (812) 416-52-86

savenkova.n.spb@mail.ruhttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliZh. G.

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

194100, Санкт-Петербург, Литовская, д. 2

Тел.: (812) 416-52-66

Professor Leviashvili Zh. Gavrilovna, MD, PhD, DMedSci, Department of faculty pediatrics

194100, St-Petersburg, Litovskaya st.,2

Phone: (812) 416-52-66

jannalevi@gmail.comСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg Pediatric Medical UniversityRussian Federation2025030920252937786Copyright © Прокофьева М.О., Савенкова Н.Д., Левиашвили Ж.Г., 20252025Прокофьева М.О., Савенкова Н.Д., Левиашвили Ж.Г.Prokofeva M.O., Savenkova N.D., Leviashvili Z.G.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/2456

ЦЕЛЬ: Оценить клинические и генотипические особенности, почечный прогноз при орфанных тубулопатиях с нефро- кальцинозом и цистиновыми конкрементами у 22 педиатрических пациентов. ПАЦИЕНТЫ И МЕТОДЫ: В исследование включены 22пациента (от 1 года 4 мес до 17 лет 11 мес) с орфанными тубулопатиями с нефрокальцинозом (22) и цистинурией, цистиновыми конкренментами (2). Из 22 пробандов было 14 (63,6 %) мальчиков и 8 (36,4 %) девочек. Применены клинические, биохимические, визуализирующие и молекулярно-генетические методы диагностики. Стратификация тяжести хронической болезни почек проведена в соответствии с классификацией K/DOQI (2002). РЕЗУЛЬТАТЫ. В результате генетического исследования из 22 детей c нефрокальцинозом установлены вследствие мутаций генов первичная гипероксалурия I, II, III типов (AGXT, GRHPR, HOGA1) у 5; семейная гипомагнемия сгиперкальциуриейи нефрокальцинозом (CLDN16) у 5; гипофосфатемический рахит с гиперкальциурией и нефрокальцинозом (SLC34A3) у 3; синдром Bartter I типа у 1(SLC12A1) и синдром Bartter IV типа (BSND) у 1, болезнь Dent1 (CLCN5) у 1, болезнь Dent 2 (OCRL) у 1, идиопатическая инфантильная гиперкальциемия I типа (SLC34A1) у 1 и II типа (CYP24A1) у 2. На основании идентификации мутации генов SLC3A1 и SLC7A9, диагностирована у 2 пробандов цистинурия I и II типа. Выявлены особенности вариантов мутаций генов у 22 детей с орфанными тубулопатиями с нефрокальцинозом ицистинурией, цистиновыми конкрементами. В результате исследования функции почек у 22 детей в возрасте более 2 лет с нефрокальцинозом и цистинурией установлены ХБП С1 с нормальной скоростью клубочковой фильтрации (17), ХБП С2, С3, С4 (5). Девочке с семейной гипомагниемией с гиперкальциурией и нефрокальцинозом вследствие мутации гена CLDN16, прогрессированием ХБП до С4 выполнена трансплантация почки в 18 лет до начала диализа. ЗАКЛЮЧЕНИЕ: Установлены особенности клинического фенотипа и вариантов мутаций генов орфанных тубулопатий с нефрокальцинозом и цистинурией, цистиновыми конкрементами у 22 детей. Прогрессирование ХБП от С1 с нормальной скоростью клубочковой фильтрации до С2, С3, С4 стадий констатировано у 5 детей (25) % из 22 с первичной гипероксалурией (1), гипомагнемией c кальциурией и нефрокальцинозом (3), болезни Dent2 (1). Идентификация му- тации генов при молекулярно-генетическом исследовании у детей с нефрокальцинозом и цистинурией уставнавливает клинико-генетический диагноз, патогенез орфанной тубулопатии, определяет персонализированное ведение с учетом индивидуальных генетических особенностей.

THE AIM: To evaluate clinical and genotypic features, renal prognosis in orphan tubulopathies with nephrocalcinosis and cys- tine calculi in 22 pediatric patients. PATIENTS AND METHODS: The study included 22 patients (from 1 year 4 months to 17 years 11 months) with orphan tubulopathies with nephrocalcinosis (22) and cystinuria, cystine stones (2). Of the 22 probands, there were 14 (63.6 %) boys and 8 (36.4 %) girls. Clinical, biochemical, imaging, and molecular genetic diagnostic methods were used. The severity of chronic kidney disease was stratified according to the K/DOQI classification (2002). RESULTS: A genetic study of 22 children with nephrocalcinosis revealed primary hyperoxaluria of types I, II, III (AGXT, GRHPR, HOGA1) in 5; familial hypomagnesemia with hypercalciuria and nephrocalcinosis (CLDN16) in 5; hypophosphatemic rickets with hypercal- ciuria and nephrocalcinosis (SLC34A3) in 3; Bartter type I syndrome (SLC12A1) in 1 and Bartter syndrome type IV (BSND) in 1, Dent1 disease (CLCN5) in 1, Dent disease 2 (OCRL) in 1, idiopathic infantile hypercalcemia type I (SLC34A1) in 1 and type II (CYP24A1) in 2. Based on the detection of mutations in the SLC3A1 and SLC7A9 genes, 2 probands were diagnosed with type I and non type I cystinuria. The features of gene mutation variants in 22 children with orphan tubulopathies with nephrocalci- nosis and cystinuria, and cystine nodules were identified. A study of kidney function in 22 children over the age of 2 years with nephrocalcinosis and cystinuria revealed CKD C1 with normal glomerular filtration rate (17), CKD C2, C3, C4 (5). A girl with familial hypomagnesemia with hypercalciuria and nephrocalcinosis due to a mutation of the CLDN16 gene, progression CKD of С1 to C4, underwent kidney transplantation at the age of 18 before starting dialysis. CONCLUSION: Features of the clinical phenotype and variants of mutations of genes of orphan tubulopathies with nephrocalcinosis and cystinuria, cystine stones in 22 children were established. Progression of CKD from C1 with normal glomerular filtration rate to C2, C3, C4 was ascertained from 22 in 5 children (25) % with primary hyperoxaluria type1 (1), hypomagnesemia with calciuria and nephrocalcinosis (3), Dent-2 Disease (1). Identification of gene mutations in molecular genetic studies in children with nephrocalcinosis and cys- tinuria establishes a clinical and genetic diagnosis, the pathogenesis of an orphan tubulopathy, and determines personalized management based on individual genetic characteristics.

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