Nephropathic Cystinosis : First reported case in Oman

• Main Authors: Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour
• Format: Article
• Language: English
• Published: Sultan Qaboos University 2011-11-01
• Series: Sultan Qaboos University Medical Journal
• Subjects: cystinosis; fanconi syndrome; lysosomal storage disease; cysteamine; crystals; case report; oman.
• Online Access: https://journals.squ.edu.om/index.php/squmj/article/view/1631
• ISSN: 2075-051X; 2075-0528

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.