Literature DB >> 678028

[Late diagnosis of cystinosis in 2 brothers: histological and ultrastructural renal study].

N Blanc-Brunat, F Berthoux, S Colon, G Janin.   

Abstract

Cystinosis was discovered by chance in two adolescent boys who had proteinuria with minor tubular abnormalities. Renal biopsies were examined by light microscopy, electron microscopy and immunofluorescence. There were few histological changes but crystals were present in the epithelial cells of the glomerulus and occasionally in the tubules. A further unusual feature was the detection of IgA deposits in the mesangium.

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Year:  1978        PMID: 678028

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  3 in total

1.  Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis.

Authors:  O L Pellett; M L Smith; A A Greene; J A Schneider
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

2.  Adolescent cystinosis: renal function and morphology.

Authors:  F Manz; E Harms; P Lutz; R Waldherr; K Schärer
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

3.  Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Authors:  Aude Servais; Vincent Morinière; Jean-Pierre Grünfeld; Laure-Hélène Noël; Jean-Michel Goujon; Bernadette Chadefaux-Vekemans; Corinne Antignac
Journal:  Clin J Am Soc Nephrol       Date:  2008-01       Impact factor: 8.237

  3 in total

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