References

nid

Нефрология и диализ

Nephrology and Dialysis

1680-44222618-9801

Российское диализное общество

nid-791

Research Article

ОБЗОРЫ И ЛЕКЦИИ

REVIEWS AND LECTURES

Нефропатический цистиноз: современные представления об этиологии и патогенезе (Обзор литературы)

Nephropathic cystinosis: current understanding of its etiology and pathogenesis Review

Каган

М. Ю.

Kagan

M. Yu.

mkaganorenburg@yahoo.com

ГУЗ «Областная детская клиническая больница», г. ОренбургRussian Federation

2012

17062025

1411522

2025

Каган М.Ю.

Kagan M.Y.

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/791

Причиной цистиноза является мутация гена CTNS, кодирующего синтез лизосомального переносчика цистина. Накопление цистина внутри лизосом приводит к развитию у большинства пациентов генерализованной дисфункции проксимальных канальцев (синдром де Тони–Дебре–Фанкони ) на первом году жизни и прогрессирующей хронической болезни почек в течение первой декады жизни. После десятилетнего возраста манифестируют клинические проявления, свидетельствующие о повреждении экстраренальных органов. Лечение цистеамином, снижающим внутриклеточную концентрацию цистина, значительно замедляет темпы прогрессирования заболевания, но не оказывает влияние на многие патогенетические механизмы. В этом обзоре обсуждаются новые представления об этиологии и патогенезе данного заболевания.

Cystinosis is caused by mutations in the CTNS gene that encodes a lysosomal cystine transporter, cystinosin. It is characterized by accumulation of cystine in the lysosomes throughout the body. In the majority of the patients, this leads to generalized proximal tubular dysfunction (also called DeToni–Debré–Fanconi syndrome) in the first year and progressive renal failure during the first decade. Extrarenal organs are also affected by cystinosis, where clinical symptoms are manifested mostly after 10 years of age. The cystine-depleting agent, cysteamine, significantly increases life expectancy of patients with cystinosis, but offers no cure due to the complexity of the disease mechanism. In this review, current knowledge on the pathogenesis of cystinosis is described.

транспорт цистинасиндром Фанкониглютатионcystine transportFanconi syndromeglutathione

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