Article
Congenital and infantile nephrotic syndrome: genotype-phenotype associations.
Pediatric research - 1 Jul 2026
Islam Md Saimul, Constantinescu Alexandru R, Smoyer William E, Mattoo Tej K, Annaim Ali Abdullahi, Plautz Emilee, Rapalo Belkis Wandique, Benoit Liz, Myette Robert L, Kallash Mahmoud, Wenderfer Scott E, Twombley Katherine, Kamigaki Yu, Muff-Luett Melissa, Rheault Michelle N, Vasylyeva Tetyana L
Abstract excerpt
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are disorders of podocytes in the slit diaphragm. CNS manifests during the first three months of life, and INS between 3-12 months, with severe proteinuria due to mutations in the NPHS1 and NPHS2 genes. This study aimed to establish specific genotype-phenotype characteristics of CNS and INS in the North American population....
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