[Familial infantile nephrotic syndrome with ocular abnormalities].
Two siblings born from consanguineous parents experienced infantile nephrotic syndrome with ocular and neurological abnormalities and a micropenis in the boy; both patients died before age 1. The opportunity to perform successively a renal biopsy and a two-step binephrectomy permitted a good histological follow-up. The lesions were characterized by mesangial involvement, followed by an extensive extracapillary proliferation and tubular dilatations with a high mitotic activity of the epithelium with anisocaryosis; the main features consisted in major ultrastructural changes of the glomerular basement membrane which were more significant and different from those previously described in the diffuse mesangial sclerosis. These 2 cases may either constitute a new entity or an extreme form of diffuse mesangial sclerosis, supported by recessive autosomal inheritance.
Glastre
C
C
Unité de néphrologie pédiatrique, hôpital Edouard-Herriot, faculté de médecine, Lyon, France.
Cochat
P
P
Colon
S
S
Bouvier
R
R
Cottin
X
X
Giffon
D
D
Wright
C
C
Dijoud
F
F
David
L
L
D001485:Basement Membrane / Q000648:ultrastructure; D003241:Consanguinity; D005124:Eye Abnormalities / Q000150:complications* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D009404:Nephrotic Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology
Syndrome néphrotique infantile familial avec anomalies oculaires.