Pediatric research
Congenital and infantile nephrotic syndrome: genotype-phenotype associations.
Md Saimul Islam, Alexandru R Constantinescu, William E Smoyer, Tej K Mattoo, Ali Abdullahi Annaim, Emilee Plautz, Belkis Wandique Rapalo, Liz Benoit, Robert L Myette, Mahmoud Kallash, Scott E Wenderfer, Katherine Twombley, Yu Kamigaki, Melissa Muff-Luett, Michelle N Rheault
Published: 202510.1038/s41390-025-04095-w
Abstract
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…
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