الملخص
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.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1321
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 11(4), 503-506
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Al-Nabhani, D., El-Naggari, M., Chacko, R., P., A., Ganesh, A., & El-Nour, I. (2025). Nephropathic Cystinosis: First reported case in Oman. Sultan Qaboos University Medical Journal, 11(4), 503-506. https://doi.org/10.18295/2075-0528.1321
MLA 9
Al-Nabhani, Dana, et al. "Nephropathic Cystinosis: First reported case in Oman." Sultan Qaboos University Medical Journal, vol. 11, no. 4, 2025, pp. 503-506. https://doi.org/10.18295/2075-0528.1321.
شيكاغو (المؤلف–التاريخ)
Al-Nabhani, Dana, Mohammed El-Naggari, Rana Chacko, Alexander P., Anuradha Ganesh, and Ibtisam El-Nour. 2025. "Nephropathic Cystinosis: First reported case in Oman." Sultan Qaboos University Medical Journal 11 (4): 503-506. https://doi.org/10.18295/2075-0528.1321.
هارفارد
Al-Nabhani, D., El-Naggari, M., Chacko, R., P., A., Ganesh, A. and El-Nour, I. (2025) 'Nephropathic Cystinosis: First reported case in Oman', Sultan Qaboos University Medical Journal, 11(4), pp. 503-506. doi:10.18295/2075-0528.1321.
فانكوفر
Al-Nabhani D, El-Naggari M, Chacko R, P. A, Ganesh A, El-Nour I. Nephropathic Cystinosis: First reported case in Oman. Sultan Qaboos University Medical Journal. 2025;11(4):503-506. doi:10.18295/2075-0528.1321
IEEE
D. Al-Nabhani, M. El-Naggari, R. Chacko, A. P., A. Ganesh, and I. El-Nour, "Nephropathic Cystinosis: First reported case in Oman," Sultan Qaboos University Medical Journal, vol. 11, no. 4, pp. 503-506, 2025, doi: 10.18295/2075-0528.1321.