Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children

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• 作者：Mohanapriya Chinambedu Dhandapani…
• 关键词：Steroid ; resistant nephrotic syndrome ; NPHS2 mutations ; Polymorphism
• 刊名：Clinical and Experimental Nephrology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：21
• 期：1
• 页码：127-133
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Nephrology; Urology;
• 出版者：Springer Japan
• ISSN：1437-7799
• 卷排序：21

文摘

BackgroundSteroid-resistant nephrotic syndrome (SRNS) is found in 10–20 % of children with idiopathic nephrotic syndrome (INS). In SRNS patients, common histopathological subtypes are Focal segmental glomerulosclerosis (FSGS) (53 %) and minimal change disease (MCD) (27 %). Familial forms of FSGS constitute podocyte diseases with varying severity and age of onset. Podocin gene (NPHS2) mutations cause childhood-onset steroid-resistant FSGS and MCD to adult-onset FSGS. In view of genetic variations and susceptibility to the disease, the present investigation was undertaken to study the pattern of genetic mutation in children from South India.