Nephrol Dial Transplant (1992) 7: 587-596
© 1992 European Renal Association-European Dialysis and Transplant Association
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Familial occurrence of primary glomerulonephritis: evidence for a role of genetic factors
1Department of Nephrology 2Department of Pathology 3Department of Paediatrics of University and Spcdali Civili Brescia, Italy 4Transplant Immunology Service 5Department of Medical Genetics and ‘Centro CNR di Immunogenetica cd Istocompatibilità’, Ospedale S. Giovanni and University of Torino Italy 6USL 37, Breno Italy
Correspondence and offprint requests to: Correspondence and offprint requests to: Dr Francesco Scolari, Division of Nephrology, Spedali Civili, P.le Ospedale Civile 1, 25125, Brescia, Italy
Chronic glomerulonephritis was diagnosed in 23 patients born in a small valley in Northern Italy and in five additional patients with one parent or a more remote ancestor born in the same area, all belonging to three potentially related families. Eighteen patients had biopsy-proven glomerulonephritis: 11 IgA nephropathy, 3 IgM nephropathy, 2 membranoproliferative type I, and 2 mesangial proliferative glomerulonephritis with isolated C3 deposits. Ten had clinical glomerulonephritis. A community screening programme discovered six additional related patients. Two underwent renal biopsy (1 IgA nephropathy; 1 focal glomerulosclerosis); four were diagnosed as having clinical glomerulonephritis. Genealogical investigation identified five deceased family members with diagnoses of chronic nephritis recorded on their death certificates. No environmental nephrotoxic factors were identified. Restriction fragment length polymorphism (RFLP) analysis of HLADR beta, HLA-DQ alpha and beta genes, and complement typing for C4A, C4B, and Bf polymorphisms were carried out for 29 patients, 168 healthy relatives, and 24 local controls. The frequency of HLA-Dw8.1 specificity, related to DR beta 8, DQ beta 3b, and DQ alpha la RFLPs, was significantly increased more in the affected and unaffected pedigree members than in Italian controls.
Keywords: complement typing; glomerulonephritis; HLA system; immunogenetics; restriction fragment length polymorphism
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