Nephropathic cystinosis: First reported case in Oman

Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in diferent 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.

Original languageEnglish
Pages (from-to)503-506
Number of pages4
JournalSultan Qaboos University Medical Journal
Volume11
Issue number4
Publication statusPublished - Nov 2011

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Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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