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 mem-branoproliferative type I, and 2 mesangial proliferat-ive glomerulonephritis with isolated C3deposits. 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 HLA-DR 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. © 1992 European Dialysis and Transplant Association-European Renal Association.

Familial occurrence of primary glomerulonephritis: Evidence for a role of genetic factors

Amoroso A.;Borelli I.;Curtoni E. S.;
1992

Abstract

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 mem-branoproliferative type I, and 2 mesangial proliferat-ive glomerulonephritis with isolated C3deposits. 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 HLA-DR 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. © 1992 European Dialysis and Transplant Association-European Renal Association.
7
7
587
596
Complement typing; Glomerulonephritis; HLA system; Immunogenetics; Restriction fragment length polymorphism
Scolari F.; Amoroso A.; Savoldi S.; Prati E.; Scaini P.; Manganoni A.; Borelli I.; Mazzola G.; Canale L.; Sacchi G.; Miglietti N.; Cristinelli L.; Curtoni E.S.; Binda P.L.; Bonomelli D.; Maiorca R.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1772838
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