title: [Familial infantile nephrotic syndrome with ocular abnormalities].
abstract: 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.
authors: Unité de néphrologie pédiatrique, hôpital Edouard-Herriot, faculté de médecine, Lyon, France.
authors: C
authors: C
authors: Glastre
authors: P
authors: P
authors: Cochat
authors: S
authors: S
authors: Colon
authors: R
authors: R
authors: Bouvier
authors: X
authors: X
authors: Cottin
authors: D
authors: D
authors: Giffon
authors: C
authors: C
authors: Wright
authors: F
authors: F
authors: Dijoud
authors: L
authors: L
authors: David
mesh_terms: 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
vernacular_title: Syndrome néphrotique infantile familial avec anomalies oculaires.