%0 Journal Article
%T A Case of Alport Syndrome with Posttransplant Antiglomerular Basement Membrane Disease despite Negative Antiglomerular Basement Membrane Antibodies by EIA Treated with Plasmapheresis and Intravenous Immunoglobulin
%A Sumiko I. Armstead
%A Thomas Hellmark
%A Jorgen Wieslander
%A Xin J. Zhou
%A Ramesh Saxena
%A Nilum Rajora
%J Case Reports in Transplantation
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/164016
%X Posttransplant antiglomerular basement membrane (anti-GBM) disease occurs in approximately 5% of Alport patients and usually ends in irreversible graft failure. Recent research has focused on characterizing the structure of the anti-GBM alloepitope. Here we present a case of a 22-year-old male with end-stage renal disease secondary to Alport syndrome, with a previously failed renal allograft, who received a second deceased-donor kidney transplant. Six days after transplantation, he developed acute kidney injury. The serum anti-GBM IgG was negative by enzyme immunoassay (EIA). On biopsy, he had crescentic glomerulonephritis with linear GBM fixation of IgG. With further analysis by western blotting, we were able to detect antibodies to an unidentified protein from the basement membrane. This patient was treated with plasmapheresis twice per week and monthly intravenous immunoglobulin (IVIG) for a total of five months. At the end of treatment, these unknown antibodies were no longer detected. His renal function improved, and he has not required dialysis. We conclude that anti-GBM disease in patients with Alport Syndrome may be caused by circulating antibodies to other components of the basement membrane that are undetectable by routine anti-GBM EIA and may respond to treatment with plasmapheresis and IVIG. 1. Introduction Alport syndrome is a genetic disorder caused by mutations in COL4A3, COL4A4, and COL4A5 genes, impairing assembly of type IV collagen. Most cases are inherited in an x-linked pattern, although some cases are autosomal recessive and autosomal dominant [1¨C3]. Anti-GBM nephritis is usually associated with the presence of circulating IgG antibodies to the noncollagenous domain of alpha Type IV collagen, manifesting as linear IgG deposition along the GBM on immunofluorescence staining. These patients develop hematuria, proteinuria, and end-stage renal disease. Therapy is unsatisfactory and usually ends in graft failure [4¨C9]. When patients with Alport syndrome receive renal transplants, posttransplant anti-GBM nephritis occurs in 3¨C5% of patients [4, 5, 7]. Here we describe a case of Alport syndrome with development of posttransplant anti-GBM nephritis with negative anti-GBM antibodies by enzyme immunoassay (EIA) who was found to have circulating antibodies to another epitope at the noncollagenous region of type IV collagen. The patient was treated with plasmapheresis and IVIG and responded excellently with preservation of renal allograft function. 2. Case Report A 22-year-old male with ESRD secondary to Alport syndrome presented for deceased
%U http://www.hindawi.com/journals/crit/2013/164016/