一个家族中人类白细胞抗原B51相关强直性脊柱炎的发生：两例报告。
Occurrence of human leukocyte antigen B51-related ankylosing spondylitis in a family: Two case reports.
作者信息
Lim Mie Jin, Noh Eul, Lee Ro-Woon, Jung Kyong-Hee, Park Won
机构信息
Rheumatology/Internal Medicine, Inha University, Incheon 22332, South Korea.
Radiology, Inha University, Incheon 22332, South Korea.
出版信息
World J Clin Cases. 2022 Jan 21;10(3):992-999. doi: 10.12998/wjcc.v10.i3.992.
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.
背景
强直性脊柱炎（AS）与人类白细胞抗原（HLA）B27单倍型密切相关。在可通过常规聚合酶链反应进行HLA分型以检测诸如HLA B27或HLA B51等抗原的地区，对AS患者进行HLA B27检测以评估病情很常见。虽然已有家族性HLA B27相关AS聚集发病的报道，但我们报告了首例家族性HLA B51相关AS发病的病例系列。
病例总结
一名父亲及其女儿被诊断为AS，且不具有HLA B27单倍型。尽管他们的HLA B51检测呈阳性，但未表现出白塞病（BD）的症状。在五个女儿中，一个患有AS，包括患AS的女儿在内的三个女儿HLA B51检测呈阳性。具有HLA B51单倍型的两个女儿（不包括患AS的女儿）表现为双侧1级骶髂关节炎，而不具有HLA B51单倍型的女儿则没有骶髂关节炎。因此，这个韩裔家族表现出与HLA B51单倍型和临床骶髂关节炎的强烈关联，与BD症状无关。
结论
对于HLA B27检测呈阴性的AS/脊柱关节病患者，建议检查其HLA B51是否呈阳性。
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