Eight patients belonging to 3 unrelated families had biopsy-proven IgM mesangial nephropathy. In the first family, the mother and the 2 daughters were affected; in the second, the mother and the son; in the third, 2 sisters and the brother. Two additional sisters of the third family showed a clinical picture consistent with chronic glomerulonephritis. The clinical picture was that of hematuria and/or proteinuria. No patients had nephrotic syndrome. Genealogic investigation enabled us to discover 2 additional affected members in the kindred of the first family (1 with IgA nephropathy, 1 with clinical glomerulonephritis) and 3 other affected members in the pedigree of the third family (1 with IgA nephropathy, 1 with sclerosing glomerulonephritis, 1 with clinical glomerulonephritis). Immunogenetic studies showed the recurrence of an extended haplotype bearing DRβ1 l-DQβ3B-DQα2-C4A3-C4B1-BfS in 9 of 10 affected members. Our data suggest that genetic factors may be involved in the mechanism of the disease and support the hypothesis that IgM nephropathy is a distinct disease entity. © 1990 S. Karger AG, Basel.

Familial IgM mesangial nephropathy: A morphologic and immunogenetic study of three pedigrees

Amoroso A.;Borelli I.;
1990

Abstract

Eight patients belonging to 3 unrelated families had biopsy-proven IgM mesangial nephropathy. In the first family, the mother and the 2 daughters were affected; in the second, the mother and the son; in the third, 2 sisters and the brother. Two additional sisters of the third family showed a clinical picture consistent with chronic glomerulonephritis. The clinical picture was that of hematuria and/or proteinuria. No patients had nephrotic syndrome. Genealogic investigation enabled us to discover 2 additional affected members in the kindred of the first family (1 with IgA nephropathy, 1 with clinical glomerulonephritis) and 3 other affected members in the pedigree of the third family (1 with IgA nephropathy, 1 with sclerosing glomerulonephritis, 1 with clinical glomerulonephritis). Immunogenetic studies showed the recurrence of an extended haplotype bearing DRβ1 l-DQβ3B-DQα2-C4A3-C4B1-BfS in 9 of 10 affected members. Our data suggest that genetic factors may be involved in the mechanism of the disease and support the hypothesis that IgM nephropathy is a distinct disease entity. © 1990 S. Karger AG, Basel.
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Complement typing; Glomerulonephritis; HLA system; IgM nephropathy; Immunogenetics; Restriction fragment length polymorphism; Adolescent; Adult; Aged; Blotting, Southern; Child; Female; Fluorescent Antibody Technique; Glomerular Mesangium; Glomerulonephritis, Membranoproliferative; HLA-DQ Antigens; HLA-DR Antigens; Haplotypes; Humans; Immunoglobulin M; Male; Middle Aged; Pedigree
Scolari F.; Scaini P.; Savoldi S.; Prati E.; Sacchi G.; Amoroso A.; Mazzola G.; Canale L.; Borelli I.; Cristinelli L.; Sandrini S.; Setti G.; Maiorca R.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1772821
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