A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants

Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at...

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Bibliographic Details
Main Authors: Kyle N. Goodman, Pongpratch Puapatanakul, Kevin T. Barton, Mai He, Jeffrey H. Miner, Joseph P. Gaut
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Nephrology
Online Access:http://dx.doi.org/10.1155/2024/5121375
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