Nephropathic cystinosis: First reported case in Oman

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

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

4 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)503-506
عدد الصفحات4
دوريةSultan Qaboos University Medical Journal
مستوى الصوت11
رقم الإصدار4
حالة النشرPublished - نوفمبر 2011

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