Nephropathic Cystinosis First reported case in Oman
Journal Title: Sultan Qaboos University Medical Journal - Year 2011, Vol 11, Issue 4
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. Tere 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. Tis condition remains quite rare in the Middle East and is the frst reported case of nephropathic cystinosis in the Omani population.
Authors and Affiliations
Dana Al-Nabhani| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Mohammed El-Naggari| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Rana Al-Sinawi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Alexander P. Chacko| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Anuradha Ganesh| Departments of Opthalmology, Sultan Qaboos University Hospital, Muscat, Oman, Ibtisam El Nour| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
Keywords
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