Ontology highlight
ABSTRACT:
SUBMITTER: Harshman LA
PROVIDER: S-EPMC4996748 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Harshman Lyndsay A LA Ng Bobby G BG Freeze Hudson H HH Trapane Pamela P Dolezal Anna A Brophy Patrick D PD Brumbaugh Jane E JE
Pediatrics international : official journal of the Japan Pediatric Society 20160621 8
Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation ...[more]