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Congenital Nephrotic Syndrome

The biopsy from this 5-year-old male with nephrotic syndrome shows immature glomeruli without segmental glomerulosclerosis (Fig 1), associated with focal microcystic tubular dilatation and mild interstitial fibrosis (Fig 2).  Furthermore, electron microscopy shows diffuse epithelial foot process effacement with microvillous transformation (Fig 3).  In the setting of nephrotic syndrome presenting in utero or in early infancy, the findings are highly suggestive of a congenital nephrotic syndrome of the Finnish type.  This entity is caused by a homozygous mutation in NPHS1, which encodes nephrin.  Nephrin is a major structural protein of the glomerular filtration slit diaphragm, which links the foot processes...

IgA and APOL1

The presence of two APOL1 risk alleles, which predominantly affects population of recent African ancestry, confers up to 29x increased risk for renal disease. The morphologic manifestation of APOL1-associated nephropathy is quite variable, and includes focal segmental glomerulosclerosis (FSGS), collapsing glomerulopathy and non-specific glomerular and tubulointerstitial arterionephrosclerosis-like chronic changes (see reference). In order to develop renal disease, it is believed that carriers of two APOL1 risk alleles required either additional genetic alterations that contribute to the disease, or additional environmental risk factors. Some of these known factors include HIV infection, sickle cell disease, systemic lupus erythematosus and membranous glomerulopathy, among...