A child was diagnosed of having Finnish type of nephrotic syndrome. It is caused by defect in following protein:
Correct Answer: Nephrin
Description: Congenital nephrotic syndrome of the Finnish type is an autosomal recessive disorder, and clinical features are due to mutations of NPHS1 gene which may lead to release of defective protein nephrin. Mutation of NPHS2 codes for podocin causes autosomal recessive steroid-resistant nephrotic syndrome. Ref: Genetic Diseases of the Kidney edited by Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin, 2009, Page 98-99.
Category:
Pathology
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