Intermediate cystinosis: a case report of 10-year treatment with cysteamine

Abstract Background Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases. Patients with intermediate cystinosis may not exhibit th...

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主要な著者:	Mariko Kawamura, Daisuke Katagiri, Yuuka Yamamoto, Keiki Shimada, Satomi Higashi, Masako Otani, Noriko Uesugi, Hideki Takano, Yukiko Shimizu, Tadashi Okamura
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2024-08-01
シリーズ:	BMC Nephrology
主題:	Case report Cystinosis Cysteamine Lysosome
オンライン･アクセス:	https://doi.org/10.1186/s12882-024-03722-8
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