Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background: Nephrotic syndrome is the most common glomerular disease in pediatric practice; it is classified to steroid resistant nephrotic syndrome (SRNS) according to failure to achieve remission despite intensive steroids therapy. More than 30 single-genes have been identified to be the underlying cause. On clinical basis it could be classified into isolated and syndromic (extrarenal manifestations) SRNS. Objectives: To characterize clinical phenotype both renal and extra-renal; to report clinical outcome and to establish genotype phenotype correlation in genetically solved SRNS patients. Methods: This study included 42 genetically solved SRNS patients who were admitted to Cairo University Children{u2019}s Hospital. Data was collected for all patients including full history, clinical examination emphasized on deep clinical phenotyping of the extrarenal manifestations, laboratory investigations, ultrasonographic findings of 24 cases and renal biopsy to 30 cases, genetic analysis for all patients and follow up data including outcome. Results: This study included 23 females & 19 males, thirty-six cases (85.7%) had consanguineous parents. The mean age of onset was 17.8+17.7 months. Extrarenal manifestations were found in 11 cases (26.8%). Seven known gene mutations and one novel gene mutation have been linked to our studied population. NPHS2 mutations represented the most common genetic mutation

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