Nephropathic Cystinosis : First reported case in Oman

Sultan Qaboos University Medical Journal

Rana Al-Sinawi¹  Mohammed El-Naggari¹  Ibtisam El Nour¹  Alexander P. Chacko¹  Dana Al-Nabhani¹  Anuradha Ganesh² 

[1] Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.;Departments of Opthalmology, Sultan Qaboos University Hospital, Muscat, Oman.;

关键词: cystinosis;    fanconi syndrome;    lysosomal storage disease;    cysteamine;    crystals;    case report;    oman.;   

DOI  :  

来源: DOAJ

【 摘 要 】

Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations. There are three types of cystinosis, infantile nephropathic cystinosis being the most severe form. In this report we present the classic clinical features of nephropathic cystinosis in an Omani child. This condition remains quite rare in the Middle East and is the first reported case of nephropathic cystinosis in the Omani population.

【 授权许可】

Unknown