nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-1342Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSДиагноз инфантильной формы цистиноза: приговор или руководство к действию? (Обзор литературы и собственное наблюдение)Diagnosis of infantile cystinosis: a sentence or a guide for action? Review and a case reportКаганМ. Ю.KaganM. Iu.mkaganorenburg@yahoo.comЛевченкоЕ. Н.LevtchenkoE. N.noemail@neicon.ruЦыгинА. Н.TsyginA. N.noemail@neicon.ruГУЗ Областная детская клиническая больница, г. ОренбургRussian FederationDepartment of Pediatric Nephrology, Gasthuisberg University Hospital, Leuven, BelgiumRussian FederationГУ Научный центр здоровья детей РАМН, г. МоскваRussian Federation200819062025103-4265271Copyright © Каган М.Ю., Левченко Е.Н., Цыгин А.Н., 20252025Каган М.Ю., Левченко Е.Н., Цыгин А.Н.Kagan M.I., Levtchenko E.N., 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/1342

Цистиноз - редкое аутосомно-рецессивное заболевание, причиной которого является мутация в гене CTNS , кодирующем лизосомальный переносчик цистина. При этом заболевании в различных органах и тканях происходит внутрилизосомальное накопление цистина и отложение его кристаллов. Описаны три клинических формы болезни, различающиеся по тяжести и времени начала клинической манифестации. Наиболее тяжелая классическая инфантильная нефропатическая форма цистиноза (OMIM # 219800) была впервые описана в начале двадцатого века Aberhalden как заболевание неизбежно приводящее к терминальной уремии в детском возрасте [15, 35]. Позднее были опубликованы наблюдения и за более легкими случаями болезни. Ювенильная или промежуточная форма (OMIM # 219900) также сопровождается поражением почек, но с манифестацией в подростковом возрасте. Взрослая или «доброкачественная» форма цистиноза (OMIM # 219750) проявляется поражением глаз с развитием фотофобии без признаков вовлечения других органов. При этом варианте болезни кристаллы цистина откладываются только в роговице и костном мозге [1]. В США цистиноз встречается с частотой 1:200 000; в Европе 1:179 000; ювенильная и взрослая формы отмечаются менее чем в 5% случаев.

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