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Sultan Qaboos Univ Med J. 2011 Nov;11(4):503-6. Epub 2011 Oct 25.

Nephropathic Cystinosis: First reported case in Oman.

Author information

  • 1Departments of Child Health and.

Abstract

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.

KEYWORDS:

Case report; Crystals; Cysteamine; Cystinosis; Fanconi syndrome; Lysosomal storage disease; Oman

PMID:
22087400
[PubMed]
PMCID:
PMC3206754
Free PMC Article

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