Main Article Content
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.
Article Details
How to Cite
Al-Nabhani, D., El-Naggari, M., Al-Sinawi, R., Chacko, A. P., Ganesh, A., & El Nour, I. (2011). Nephropathic Cystinosis : First reported case in Oman. Sultan Qaboos University Medical Journal, 11(4), 503–506. Retrieved from https://journals.squ.edu.om/index.php/squmj/article/view/1631