A Case of Anti-Glomerular Basement Membrane Antibody Disease in Siblings

Pen Li, Pierre-Marc Villeneuve

Abstract


Anti-glomerular basement membrane (anti-GBM) antibody disease, also known as Goodpasture syndrome, is associated with the presence of antibodies against type 4 collagen. Increasing evidence supports the role of human leukocyte antigen (HLA) genes in the pathogenesis of this disease. A 48-year-old Caucasian male was admitted to the intensive care unit with diffuse alveolar hemorrhage and rapidly progressive glomerulonephritis. Serology demonstrated high anti-GBM antibodies (291.8 U/L). Renal biopsy showed crescentic glomerulonephritis involving 16 of 19 glomeruli with strong linear and diffuse IgG staining confirming the diagnosis of anti-GBM antibody disease. The patient’s sister presented with pulmonary-renal syndrome at age 29 due to the same illness. Subsequent HLA typing revealed that our patient was homozygous for DRB1*15:01, an allele strongly associated with anti-GBM antibody disease. To our knowledge, this is the first case report of anti-GBM antibody disease in a patient who is homozygous for DRB1*15:01 with a sibling who had the same diagnosis. Our case highlights the importance of HLA genes in the pathogenesis of this disease.




World J Nephrol Urol. 2015;4(1):178-180
doi: http://dx.doi.org/10.14740/wjnu198w


Keywords


Anti-GBM disease; Goodpasture disease; Familial; Genetic; Siblings; Relative

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