TY - JOUR
T1 - Familial antiglomerular basement membrane disease in zero human leukocyte antigen mismatch siblings
AU - Angioi, Andrea
AU - Cheungpasitporn, Wisit
AU - Sethi, Sanjeev
AU - De Vriese, An S.
AU - Lepori, Nicola
AU - Schwab, Thomas R.
AU - Fervenza, Fernando C.
N1 - Publisher Copyright:
© 2017 Dustri-Verlag Dr. K. Feistle.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Antiglomerular basement membrane disease
KW - Crescentic glomerulonephritis
KW - Familial anti-GBM disease
KW - HLA-DR15
KW - Rapidly-progressive glomerulonephritis
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U2 - 10.5414/CN109206
DO - 10.5414/CN109206
M3 - Article
C2 - 28853702
AN - SCOPUS:85031805887
SN - 0301-0430
VL - 88
SP - 277
EP - 283
JO - Clinical nephrology
JF - Clinical nephrology
IS - 5
ER -