Nail‐patella syndrome in a spontaneously aborted 18‐week fetus: ultrastructural and immunofluorescent study of the kidneys

RM Drut, S Chandra, R Latorraca… - American journal of …, 1992 - Wiley Online Library
RM Drut, S Chandra, R Latorraca, E Gilbert‐Barness
American journal of medical genetics, 1992Wiley Online Library
Abstract Nail‐patella syndrome (NPS), hereditary onycho‐osteodysplasia, is an autosomal
dominant disorder of nail dystrophy, patellar absence or hypoplasia, incomplete elbow
extension, conical posterior iliac horns, and nephropathy. We studied the kidneys of an 18‐
week spontaneously aborted fetus of a mother with the NPS. Ultrastructural examination of
the kidney showed thickening of the capillary walls of the glomeruli and mesangium. There
was irregular thickening of basement membranes with subendothelial fibrillar electron …
Abstract
Nail‐patella syndrome (NPS), hereditary onycho‐osteodysplasia, is an autosomal dominant disorder of nail dystrophy, patellar absence or hypoplasia, incomplete elbow extension, conical posterior iliac horns, and nephropathy.
We studied the kidneys of an 18‐week spontaneously aborted fetus of a mother with the NPS. Ultrastructural examination of the kidney showed thickening of the capillary walls of the glomeruli and mesangium. There was irregular thickening of basement membranes with subendothelial fibrillar electron‐dense deposits. Immunofluorescence showed fibrinogen deposition in glomerular basement membranes. Fibrinogen deposition in utero may ultimately lead to glomerular fibrosis and intrabasement membrane collagen deposition as seen in the adult renal lesion of this syndrome.
This is the first report of the NPS in which the renal abnormalities have been studied in a fetus. These findings provide support for possible prenatal diagnosis of NPS by intrauterine kidney biopsy. © 1992 Wiley‐Liss, Inc.
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