Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India
Sign Up to like & getrecommendations! Published in 2021 at "Indian Pediatrics"
DOI: 10.1007/s13312-021-2215-5
Abstract: Information on etiology of congenital nephrotic syndrome in non-Caucasian populations is limited. This study aimed to determine the genetic basis of congenital nephrotic syndrome in Indian patients. In this observational, cross-sectional study, whole exome sequencing… read more here.
Keywords: cross sectional; congenital nephrotic; etiology; study ... See more keywords
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000032970
Abstract: Rationale: Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis… read more here.
Keywords: congenital nephrotic; nphs1 gene; nephrotic syndrome; heterozygous mutation ... See more keywords
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation
Sign Up to like & getrecommendations! Published in 2019 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-019-0690-2
Abstract: BackgroundCongenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was… read more here.
Keywords: congenital nephrotic; 22q11 duplication; duplication syndrome; syndrome ... See more keywords