Pediatr Nephrol. 1990 Jul;4(4):340-2.

Familial infantile nephrotic syndrome with ocular abnormalities.

Glastre C, Cochat P, Bouvier R, Colon S, Cottin X, Giffon D, Wright C, Dijoud F, David L.

Source

Unité de Néphrologie Pédiatrique, Hôpital Edouard Herriot, Lyon, France.

Abstract

Two siblings born from consanguineous parents experienced infantile nephrotic syndrome with ocular and neurological abnormalities; the boy also had a micropenis; both patients died before age 1 year. An initial renal biopsy followed by a two-step binephrectomy allowed good histological assessment of disease progression in one patient. The progression of the lesions was characterized by mesangial involvement, then an extensive extracapillary proliferation and tubular dilatations with a high mitotic activity of the epithelium and nuclei of unequal size. The main features involved major ultrastructural changes of the glomerular basement membrane. These two patients may represent a new disease entity or a severe form of diffuse mesangial sclerosis, with autosomal recessive inheritance.

PMID:: 2206901; [PubMed - indexed for MEDLINE]

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[Familial infantile nephrotic syndrome with ocular abnormalities]. [Pediatrie. 1989]
[Familial infantile nephrotic syndrome with ocular abnormalities].
Glastre C, Cochat P, Colon S, Bouvier R, Cottin X, Giffon D, Wright C, Dijoud F, David L. Pediatrie. 1989; 44(7):555-8.
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. [Acta Paediatr Scand. 1982]
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred.
Mendelsohn HB, Krauss M, Berant M, Lichtig C. Acta Paediatr Scand. 1982 Sep; 71(5):753-8.
Review Infantile nephrotic syndrome. [Clin Nephrol. 1976]
Review Infantile nephrotic syndrome.
George CR, Hickman RO, Stricker GE. Clin Nephrol. 1976 Jan; 5(1):20-4.
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. [J Med Genet. 1994]
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.
Garty BZ, Eisenstein B, Sandbank J, Kaffe S, Dagan R, Gadoth N. J Med Genet. 1994 Feb; 31(2):121-5.
Review Congenital and infantile nephrotic syndromes. [Prog Clin Biol Res. 1989]
Review Congenital and infantile nephrotic syndromes.
Norio R, Rapola J. Prog Clin Biol Res. 1989; 305:179-92.

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Cited by 3 PubMed Central articles

Steroid dependent and independent ocular findings in Iranian children with nephrotic syndrome. [Int J Prev Med. 2011]
Steroid dependent and independent ocular findings in Iranian children with nephrotic syndrome.
Gheissari A, Attarzadeh H, Sharif H, Pourhossein M, Merrikhi A. Int J Prev Med. 2011 Oct; 2(4):264-8.
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. [Am J Pathol. 1999]
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.
Yang Y, Jeanpierre C, Dressler GR, Lacoste M, Niaudet P, Gubler MC. Am J Pathol. 1999 Jan; 154(1):181-92.
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. [J Med Genet. 1994]
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.
Garty BZ, Eisenstein B, Sandbank J, Kaffe S, Dagan R, Gadoth N. J Med Genet. 1994 Feb; 31(2):121-5.

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