Variants of Alport's syndrome |
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Authors: | J. P. Grünfeld G. Grateau Laure-Hélène Noel R. Charbonneau Marie-Claire Gubler C. O. S. Savage C. M. Lockwood |
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Affiliation: | (1) Départment de Néphrologie, Hôpital Necker, 161 Rue de Sévres, F-75743 Paris, Cédex 15, France;(2) Unité INSERM U-192, Hôpital Necker-Enfants Malades, F-75743 Paris, France;(3) Royal Postgraduate Medical School, London, England |
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Abstract: | Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) or with esophageal, tracheobronchial and genital leiomyomatosis. Within Alport's syndrome there appears to be no justification for differentiating those with nephritis and deafness from those with nephritis alone. However, in indirect immunofluorescence studies using the mouse monoclonal antibody, MCA-P1, which recognizes the glomerular basement membrane (GBM), reduced or absent binding was found in 20 of 42 cases of hereditary nephritis. Most of these showed typical ultrastructural GMB changes. These results suggest that there is probably a subset of patients characterized by typical GBM lesions and an absence, inaccessibility or abnormality of the GBM antigen recognized by MCA-P1. |
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Keywords: | Hereditary nephritis Alport's syndrome Glomerular basement membrane Immunofluorescence Macrothrombocytopenia |
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