Nephropathic cystinosis. An underestimated problem in pediatric nephrology
- Авторлар: Tsygin AN1, Kagan MY.1, Kartamysheva NN1, Karagulyan NA1, Levchenko EN1
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Мекемелер:
- Шығарылым: № 4 (2011)
- Беттер: 20-23
- Бөлім: Articles
- URL: https://journals.eco-vector.com/2075-3594/article/view/245949
- ID: 245949
Дәйексөз келтіру
Толық мәтін
Аннотация
Pathogenesis and clinical signs of cystinosis, as well as Russian experience of the diagnosis and treatment of this disease are reviewed
Cystinosis is a rare autosomal-recessive disease resulting from intra-lysosomal cystine accumulation. The kidney damage leads to Fanconi syndrome with a progressive decline in renal function. Cornea, endocrine glands, nervous system, bones and muscles are also affected. The article highlights pathogenesis, clinical symptoms and treatment approach in cystinosis. Russian experience of diagnostics and treatment of cystinosis is summarized
Cystinosis is a rare autosomal-recessive disease resulting from intra-lysosomal cystine accumulation. The kidney damage leads to Fanconi syndrome with a progressive decline in renal function. Cornea, endocrine glands, nervous system, bones and muscles are also affected. The article highlights pathogenesis, clinical symptoms and treatment approach in cystinosis. Russian experience of diagnostics and treatment of cystinosis is summarized
Негізгі сөздер
Әдебиет тізімі
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