nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/2618-9801-2026-1-88-100nid-3978Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESКлинико-генетические характеристики российских детей с болезнью Дента и синдромом Лоу: опыт одного центраClinical and genetic characteristics of Russian children with Dent's disease and Lowe syndrome: a single-center experiencehttps://orcid.org/0000-0003-1615-2044МиловановаА. М.MilovanovaA. M.

Милованова Анастасия Михайловна – канд. мед. наук, врач‑нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Anastasiia M. Milovanova.

2/1, Lomonosovsky pr. Moscow, 119991

Milovanova.am@nczd.ruhttps://orcid.org/0000-0003-3131-331XАнаньинП. В.AnaninP. V.

Ананьин Петр Владимирович – канд. мед. наук, врач‑нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Petr V. Ananin.

2/1, Lomonosovsky pr. Moscow, 119991

ananin.pv@gmail.comhttps://orcid.org/0000-0002-3308-3039ВашуринаТ. В.VashurinaT. V.

Вашурина Татьяна Валериевна – канд. мед. наук, врач‑нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Tatiana V. Vashurina.

2/1, Lomonosovsky pr. Moscow, 119991

tvv-09@mail.ruhttps://orcid.org/0000-0001-5010-0956ЗробокО. И.ZrobokO. I.

Зробок Ольга Исофатовна – канд. мед. наук, врач‑нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Olga I. Zrobok.

2/1, Lomonosovsky pr. Moscow, 119991

zrobochek@mail.ruhttps://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovA. A.

Пушков Александр Алексеевич – канд. биол. наук., в.н.с. лаборатории медицинской геномики ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Alexandr A. Pushkov.

2/1, Lomonosovsky pr. Moscow, 119991

pushkovgenetika@gmail.comhttps://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovK. V.

Савостьянов Кирилл Викторович – д‑р биол. наук., начальник медико‑генетического центра, зав. лабораторией медицинской геномики ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Kirill V. Savostyanov.

2/1, Lomonosovsky pr. Moscow, 119991

7443333@gmail.comhttps://orcid.org/0000-0001-6301-9313ЦыгинА. Н.TsyginA. N.

Цыгин Алексей Николаевич – д‑р биол. наук, проф., зав. нефрологическим отделением ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2, стр. 1

Alexey N. Tsygin.

2/1, Lomonosovsky pr. Moscow, 119991

a_tsygin@mail.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Министерства здравоохранения Российской ФедерацииРоссия«National Medical Research Center for Children’s Health» of the Ministry of Health of Russian FederationRussian Federation20260104202628188100Copyright © Милованова А.М., Ананьин П.В., Вашурина Т.В., Зробок О.И., Пушков А.А., Савостьянов К.В., Цыгин А.Н., 20262026Милованова А.М., Ананьин П.В., Вашурина Т.В., Зробок О.И., Пушков А.А., Савостьянов К.В., Цыгин А.Н.Milovanova A.M., Ananin P.V., Vashurina T.V., Zrobok O.I., Pushkov A.A., Savostyanov K.V., Tsygin A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/3978

Болезнь Дента и синдром Лоу – наследственные тубулопатии, характеризующиеся низкомолекулярной протеинурией, гиперкальциурией и нефрокальцинозом. Протеинурия может достигать высоких значений, что требует дифференциальной диагностики со стероид-резистентным нефротическим синдромом.

Материалы и методы

Материалы и методы: на базе нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава России за период с 2010 по 2025 годы наблюдался 41 ребенок с болезнью Дента или синдромом Лоу. Болезнь Дента 1 типа подтверждена у 29 детей (71%), 2 типа – у 3 детей (7%), 3 типа – у 3 детей (7%). Синдром Лоу диагностирован у 6 детей (15%).

Результаты

Результаты: у всех детей отмечалась низкомолекулярная протеинурия – от 139 до 3653 мг/м2/сут., медиана 1590 (952; 2248) мг/м2/сут. УЗ-признаки нефрокальциноза отмечены у 61% пациентов, гиперкальциурия также отмечена в 66% случаев.

По результатам молекулярно-генетического исследования лишь у троих детей не найдено причинных вариантов в генах CLCN5 и OCRL. Среди обнаруженных патогенных вариантов практически все были уникальны, лишь один вариант CLCN5 c.2320C>T отмечен у пары неродственных детей.

К моменту написания статьи (средний возраст составил 9 лет 8 мес., SD 5 лет 1 мес.) снижение функции почек по клубочковой фильтрации отмечено у 41% пациентов, при этом потребность в заместительной почечной терапии возникла лишь у 1 ребенка (2%). Мы не выявили корреляций между снижением расчетной скорости клубочковой фильтрации (рСКФ) и максимальным уровнем протеинурии, наличием нефрокальциноза, задержкой физического развития. Выявлена корреляция Z-score роста с уровнем суточной протеинурии (ϱ=-0,451, p<0,01).

Выводы

Выводы: диагноз болезни Дента и синдрома Лоу может быть выставлен клинически по результатам лабораторно-инструментальных методов исследования.

С учетом большого разнообразия выявленных вариантов в генах CLCN5 и OCRL оценка генотипфенотипических корреляций сложна и требует дальнейшего исследования на больших выборках.

Dent disease and Lowe syndrome are hereditary tubulopathies characterized by low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis. Proteinuria may reach high levels, necessitating differential diagnosis with steroid-resistant nephrotic syndrome.

Materials and Methods

Materials and Methods: from 2010 to 2025, 41 children with Dent disease or Lowe syndrome were followed at the Nephrology Department of the National Medical Research Center for Children's Health. Dent disease type 1 was confirmed in 29 children (71%), type 2 in 3 children (7%), and type 3 in 3 children (7%). Lowe syndrome was diagnosed in 6 children (15%).

Results

Results: all children exhibited low-molecular-weight proteinuria, ranging from 139 to 3,653 mg/m2/day, with a median of 1,590 (952; 2248) mg/m2/day. Ultrasound signs of nephrocalcinosis were observed in 61% of patients, and hypercalciuria was detected in 66%.

Molecular genetic testing identified causative variants in the CLCN5 and OCRL genes in all but three children. Nearly all detected pathogenic variants were unique; only one variant, CLCN5 c.2320C>T was found in two unrelated children.

At the time of analysis (mean age 9 years 8 months, SD 5 years 1 months), decreased renal function was present in 41% of patients. Renal replacement therapy was required in only one child (2%). No correlations were found between decreased estimated GFR and maximum proteinuria level, presence of nephrocalcinosis, or growth retardation. However, a significant correlation was observed between growth Z-score and the daily proteinuria level (ϱ=-0.451, p<0.01).

Conclusions

Conclusions: Dent disease and Lowe syndrome can be clinically based on laboratory and instrumental findings, with molecular genetic testing confirming the diagnosis.

Given the wide variety of variants identified in the CLCN5 and OCRL genes, establishing genotype-phenotypic correlations is challenging and requires further investigation in larger cohorts.

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