Familial antiglomerular basement membrane disease in zero human leukocyte antigen mismatch siblingsâ©.
Clin Nephrol
; 88(11): 277-283, 2017 Nov.
Article
em En
| MEDLINE
| ID: mdl-28853702
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.â©.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Teste de Histocompatibilidade
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Doença Antimembrana Basal Glomerular
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Subtipos Sorológicos de HLA-DR
Limite:
Aged
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Female
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Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article