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
Improving Outcomes in Advanced Lung Cancer Maintenance therapy in non-small-cell lung carcinoma
Systemic chemotherapy has remained the traditional treatment for metastatic non-small-cell lung carcinoma (NSCLC), enhancing survival rate at 1 year to 29%. Te median survival had plateaued at around 10 months until ea...
Solitary Peripheral Osteoma of the Hard Palate Case report and literature review
Osteomas are benign slow-growing osteogenic lesions of unknown aetiology which can be central, peripheral or extraskeletal. Peripheral osteomas of the maxilla are very uncommon. We report a 72-year-old female patient w...
Dyslexia Its impact on the Individual, Parents and Society
A New Cellular Weapon to Kill Leukaemic B-Cells
The Effect of Antepartum Depression on the Outcomes of Pregnancy and Development of Postpartum Depression: A prospective cohort study of Omani women
Objectives: This study aimed to identify the relationship between antenatal depression and pregnancy outcomes, including the risk of developing postpartum depression in Oman. Methods: This follow-up prospective longitudi...