Abstract:
Congenital nephrotic syndrome is a rare inherited
disorder arising from defects in the proteins of the
cells in the glomerular basement membrane and develops
either in utero or at birth. The clinical presentation
is the result of massive protein loss in the urine
with associated compensatory mechanisms.
Here we present a clinical case of a female toddler
with a history of anasarca (severe generalised edema)
from birth and who presents with the classical
biochemical laboratory findings of nephrotic syndrome,
together with the more pronounced features
that arise from protein loss including abnormal thyroid
function testing and a marked hypercholesterolaemia.
Renal biopsy indicated congenital nephrotic
syndrome of the Finnish type. This clinical-diagnostic
case report represents an example of the broad spectrum
of pathophysiological findings of a severe congenital
nephrotic syndrome.
