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Currently filtering by tag: Congenital kidney disease


This kidney biopsy is from a 16-year-old boy with a history of chronic reflux nephropathy. Imaging findings showed unilateral segmental cortical scarring. Although regions of the biopsy show intact renal cortex with normal appearing glomeruli and tubules (Fig. 1), well-demarcated adjacent cortical segments are aglomerular and show severe tubular dropout and interstitial fibrosis (Fig. 2). No definite dysplastic features are noted. This pattern of renal injury supports the clinical impression of unilateral segmental renal hypoplasia (Ask-Upmark kidney). Vesicoureteral reflux is thought to be the main cause of injury in an Ask-Upmark kidney. The condition was first described by the Swedish...

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...