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  • Title: [Familial infantile nephrotic syndrome with ocular abnormalities].
    Author: Glastre C, Cochat P, Colon S, Bouvier R, Cottin X, Giffon D, Wright C, Dijoud F, David L.
    Journal: Pediatrie; 1989; 44(7):555-8. PubMed ID: 2812971.
    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.
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