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

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

Research output: Contribution to journalArticle

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

Fingerprint

Anti-Glomerular Basement Membrane Disease
HLA Antigens
Basement Membrane
Siblings
Renal Dialysis
Kerosene
Kidney
Plasmapheresis
Rare Diseases
Glomerulonephritis
Hydrocarbons
Acute Kidney Injury
Viscosity
Cyclophosphamide
Adrenal Cortex Hormones
Transplants
Lung
Mutation

Keywords

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

ASJC Scopus subject areas

  • Nephrology

Cite this

Familial antiglomerular basement membrane disease in zero human leukocyte antigen mismatch siblings. / Angioi, Andrea; Cheungpasitporn, Wisit; Sethi, Sanjeev M; De Vriese, An S.; Lepori, Nicola; Schwab, Thomas R.; Fervenza, Fernando Custodio.

In: Clinical Nephrology, Vol. 88, No. 5, 2017, p. 277-283.

Research output: Contribution to journalArticle

Angioi, Andrea ; Cheungpasitporn, Wisit ; Sethi, Sanjeev M ; De Vriese, An S. ; Lepori, Nicola ; Schwab, Thomas R. ; Fervenza, Fernando Custodio. / Familial antiglomerular basement membrane disease in zero human leukocyte antigen mismatch siblings. In: Clinical Nephrology. 2017 ; Vol. 88, No. 5. pp. 277-283.
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