Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in diferent 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.
|Number of pages||4|
|Journal||Sultan Qaboos University Medical Journal|
|Publication status||Published - Nov 2011|
- Case report
- Fanconi syndrome
- Lysosomal storage disease
ASJC Scopus subject areas