PMID- 28853702
OWN - NLM
STAT- MEDLINE
DCOM- 20180516
LR  - 20181202
IS  - 0301-0430 (Print)
IS  - 0301-0430 (Linking)
VI  - 88
IP  - 11
DP  - 2017 Nov
TI  - Familial antiglomerular basement membrane disease in zero human leukocyte antigen 
      mismatch siblings
.
PG  - 277-283
LID - 10.5414/CN109206 [doi]
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.
.
FAU - Angioi, Andrea
AU  - Angioi A
FAU - Cheungpasitporn, Wisit
AU  - Cheungpasitporn W
FAU - Sethi, Sanjeev
AU  - Sethi S
FAU - De Vriese, An S
AU  - De Vriese AS
FAU - Lepori, Nicola
AU  - Lepori N
FAU - Schwab, Thomas R
AU  - Schwab TR
FAU - Fervenza, Fernando C
AU  - Fervenza FC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Clin Nephrol
JT  - Clinical nephrology
JID - 0364441
RN  - 0 (HLA-DR Serological Subtypes)
RN  - 0 (HLA-DR15 antigen)
SB  - IM
MH  - Aged
MH  - Anti-Glomerular Basement Membrane Disease/*genetics/immunology/therapy
MH  - Female
MH  - HLA-DR Serological Subtypes/*genetics
MH  - *Histocompatibility Testing
MH  - Humans
MH  - Renal Dialysis
MH  - Siblings
EDAT- 2017/08/31 06:00
MHDA- 2018/05/17 06:00
CRDT- 2017/08/31 06:00
PHST- 2017/10/19 00:00 [accepted]
PHST- 2017/08/31 06:00 [pubmed]
PHST- 2018/05/17 06:00 [medline]
PHST- 2017/08/31 06:00 [entrez]
AID - 16166 [pii]
AID - 10.5414/CN109206 [doi]
PST - ppublish
SO  - Clin Nephrol. 2017 Nov;88(11):277-283. doi: 10.5414/CN109206.