Podocin mutations in Indian children with primary idiopathic steroid resistant syndrome

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Idiopathic nephrotic syndrome (NS) is the most frequent glomerular disease in childhood that is encountered in our clinical practice and a significant proportion of it (20%-30%) is diagnosed as steroid resistant nephrotic syndrome.  This is associated with significant mortality and morbidity. In the past few years, the progresses in molecular genetics have allowed the discovery of several genes involved in maintaining the integrity of glomerular filtration barrier which indicates the importance of genetic factors in the pathogenesis of NS. Since SRNS in Indian children is also common (20-30% of all cases of NS), we hypothesized that genetic and environmental factors may provide clues to understand the natural history, therapeutic responsiveness and outcomes in SRNS patients. We plan to study the relative frequency of mutations in identified genes, its phenotypic variability and characterize the outcomes.  The study may help us in understanding the clinical utility of genetic testing and in developing a genetic testing approach specific to our population and also rationalize treatment.

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