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