Familial antiglomerular basement membrane disease in zero human leukocyte antigen mismatch siblings

Andrea Angioi, Wisit Cheungpasitporn, Sanjeev Sethi, An S. De Vriese, Nicola Lepori, Thomas R. Schwab, Fernando C. Fervenza

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Reported cases of familial Antiglomerular basement membrane (anti- GBM) disease are extremely rare. The single gene mutations that may play a role in the development of familial anti-GBM disease are currently unidentified. While human leukocyte antigen (HLA)-DR15 is known to be associated with an increased risk of anti-GBM disease, HLA types in patients with familial anti-GBM disease have never been reported. We present a case of a 65-year-old woman with rapidly-progressive glomerulonephritis and pulmonary involvement, consistent with Goodpasture's syndrome. Two of her 15 siblings also had a history of anti-GBM disease during adolescence and both received a kidney transplant. Our patient and her siblings were smokers and had also had exposure to kerosene, a low-viscosity hydrocarbon. HLA testing was performed and showed identical HLA typing (0 of 6 HLA mismatch) as one of her brothers with anti-GBM disease. Interestingly, they both had HLA-DR15. Despite severe acute kidney injury requiring hemodialysis, the patient responded well to the standard therapy with cyclophosphamide, plasmapheresis, and systemic corticosteroids. At her 3-month follow-up visit, the patient's kidney functions had recovered, and hemodialysis was discontinued. Concluding, we illustrate an extremely rare familial anti-GBM disease involving 3 siblings with potential links of HLA-DR15 and environmental triggers with the development of familial anti- GBM disease.

Original languageEnglish (US)
Pages (from-to)277-283
Number of pages7
JournalClinical nephrology
Volume88
Issue number5
DOIs
StatePublished - 2017

Keywords

  • Antiglomerular basement membrane disease
  • Crescentic glomerulonephritis
  • Familial anti-GBM disease
  • HLA-DR15
  • Rapidly-progressive glomerulonephritis

ASJC Scopus subject areas

  • Nephrology

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