Genetic basis of congenital nephrotic syndrome.
A young girl presented at 1 month of age with nephrotic syndrome. By incorporating clinical and pathologic data, the diagnosis of congenital nephrotic syndrome, Finnish type, was made. The differential diagnosis of early onset nephrotic syndrome, as it pertains to this patient is discussed. This article highlights recently discovered glomerular filtration proteins and their relationship to the pathophysiology of inherited kidney disease.
Finn
Laura S
LS
Department of Laboratories, 6P-1, Children's Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA. lfinn@chmc.org
D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D011507:Proteinuria / Q000209:etiology