Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

Abstract Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan. Most cystinosis is the nephropathic...

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Bibliographic Details
Main Authors: Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito
Format: Article
Language:English
Published: BMC 2017-09-01
Series:BMC Nephrology
Subjects:
Cystinosis
Juvenile
Fanconi syndrome
CTNS gene
Cysteamine
Online Access:http://link.springer.com/article/10.1186/s12882-017-0721-4

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http://link.springer.com/article/10.1186/s12882-017-0721-4

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