Familial Eosinophilic Granulomatosis with Polyangiitis  

作　　者：Abdurhman S. Al Arfaj Mohammad Al Anazi Najma Khalil Akbar Ali Khan Pathan Narsimha Reddy Parine 

机构地区：[1]Department of Medicine, Rheumatology Division, College of Medicine, King Saud University, Riyadh, KSA [2]Department of Biochemistry, College of Science, King Saud University, Riyadh, KSA [3]Integrated Gulf Biosystems, Riyadh, KSA

出　　处：《Open Journal of Rheumatology and Autoimmune Diseases》2017年第3期137-146,共10页风湿病与自身免疫疾病期刊（英文）

摘　　要：Eosinophilic granulomatosis with polyangiitis (EGPA) is an uncommon ANCA associated vasculitic disorder characterized by systemic necrotizing vasculitis of small vessels occurring exclusively among patients with bronchial asthma and tissue eosinophilia. Familial EGPA is extremely rare. Only two case reports have been published so far. We present a Saudi family with 3 cases of EGPA and almost three-fourths of family members affected by asthma. We explored genetic basis of EGPA in this family and found that genes were mutated in four affected siblings suggesting genetic involvement in susceptibility to EGPA.Eosinophilic granulomatosis with polyangiitis (EGPA) is an uncommon ANCA associated vasculitic disorder characterized by systemic necrotizing vasculitis of small vessels occurring exclusively among patients with bronchial asthma and tissue eosinophilia. Familial EGPA is extremely rare. Only two case reports have been published so far. We present a Saudi family with 3 cases of EGPA and almost three-fourths of family members affected by asthma. We explored genetic basis of EGPA in this family and found that genes were mutated in four affected siblings suggesting genetic involvement in susceptibility to EGPA.

关 键 词：FAMILIAL EOSINOPHILIC GRANULOMATOSIS with Polyangiitis Churg-Strauss SYNDROME ANCA Associated VASCULITIS 

分 类 号：R5[医药卫生—内科学]