Occurrence of human leukocyte antigen B51-related ankylosing spondylitis in a family:Two case reports  

作　　者：Mie Jin Lim Eul Noh Ro-Woon Lee Kyong-Hee Jung Won Park 

机构地区：[1]Rheumatology/Internal Medicine,Inha University,Incheon 22332,South Korea [2]Radiology,Inha University,Incheon 22332,South Korea

出　　处：《World Journal of Clinical Cases》2022年第3期992-999,共8页世界临床病例杂志

摘　　要：BACKGROUND Ankylosing spondylitis(AS)is strongly associated with the human leukocyte antigen(HLA)B27 haplotype.In regions where conventional polymerase chain reaction for HLA typing is available for antigens such as HLA B27 or HLA B51,it is common to perform the HLA B27 test for evaluation of AS.While HLA B27-associated clustered occurrences of AS have been reported in families,we report the first case series of HLA B51-related occurrences of AS in a family.CASE SUMMARY A father and his daughters were diagnosed with AS and did not have the HLA B27 haplotype.Although they were positive for HLA B51,they exhibited no signs of Behçet’s disease(BD).Of the five daughters,one had AS,and three,including the daughter with AS,were positive for HLA B51.The two daughters with the HLA B51 haplotype(excluding the daughter with AS)exhibited bilateral grade 1 sacroiliitis,whereas the daughters without the HLA B51 haplotype did not have sacroiliitis.Thus,this Korean family exhibited a strong association with the HLA B51 haplotype and clinical sacroiliitis,irrespective of the symptoms of BD.CONCLUSION It is advisable to check for HLA B51 positivity in patients with AS/spondyloarthropathy who test negative for HLA B27.

关 键 词：Ankylosing spondylitis SPONDYLOARTHROPATHY Human leukocyte antigen B51 Human leukocyte antigen B27 SACROILIITIS Case report 

分 类 号：R593.23[医药卫生—内科学]