Author/Authors :
Al-Nabhani, Dana Sultan Qaboos University Hospital - Department of Child Health, Oman , El-Naggari, Mohammed Sultan Qaboos University Hospital - Department of Child Health, Oman , Al-Sinawi, Rana Sultan Qaboos University Hospital - Department of Child Health, Oman , Chacko, Alexander P. Sultan Qaboos University Hospital - Department of Child Health, Oman , Ganesh, Anuradha Sultan Qaboos University Hospital - Department of Opthalmology, Oman , El Nour, Ibtisam Sultan Qaboos University Hospital - Department of Child Health, Oman
Abstract :
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 :
Cystinosis , Fanconi syndrome , Lysosomal storage disease , Cysteamine , Crystals , Case report , Oman
