幼年强直性脊柱炎临床特点和HLA-B27亚型的相关性研究

The relationship between the clinical characters of juvenile ankylosing spondylitis and subtypes of HLA-B27

目的提高对幼年强直性脊柱炎(JAS)和HLA-B27亚型相关性的认识.方法分析检测55例JAS患儿HLA-B27亚型和临床特点.采用国际标准微量淋巴细胞毒实验法进行血清学分型.DNA分型采用聚合酶链反应-序列特异引物技术(PCR-SSP)检测出B*2701-B*2713等位基因亚型.DNA提取:取受测对象外周静脉血3 ml,5%乙二胺四乙酸(EDTA)抗凝,饱和醋酸钠盐析法制备基因组DNA,PCR-SSP方法扩增.详细记录病史、家族史、全面体格检查,包括临床症状、体征、关节及关节外表现,相关影像学及实验室检查,随访1～5年.结果55例JAS患儿中B*2704阳性者27例,B*2705阳性者25例,B*2702、B*2707/2708及B*2705/2708各1例.B*2705阳性组36%(9/25)患儿关节肿痛伴发热,其中68%(17/25)存在外周关节炎,36%(9/25)为多关节炎,71%(17/24)CT显示骶髂关节病变为2级以上改变.B*2704阳性组仅表现为关节肿痛,均无发热,74%(20/27)存在外周关节炎,其中有15%(4/27)为多关节炎表现,32%(8/25)CT显示骶髂关节病变2级以上改变.经统计学分析骶髂关节病变HLA-B*2704组和B*2705组之间差异有显著性(P＜0.005).结论JAS临床表现因HLA-B27亚型分布不同各有特点,等位基因B*2705阳性患儿除关节症状外更易同时伴有发热,预后较等位基因B*2704阳性患儿差.

Objective To understand the relationshop between the clinical characters of juvenile ankylosing spondylitis (JAS) and subtypes of HLA-B27 molecules. Methods The typing of serology was carried out by trace lymphocytotoxicity test (LCT) according to international standard. The DNA typing was undertaken by polymerase chain reaction-sequence specific primer technique and detected allele subtypes ranged from B*2701 to B*2713. Every patient had detailed data including clinical symptoms, physical signs, joint symtoms, other manifestations and correlated image and laboratory examination. All patients had been followed-up from one to five years. The distribution and clinical characters of subtypes HLA-B*2704 and 2705 was analyzed and compared. Results Twenty-seven of the 55 JAS patients had HLA-B*2704 positive in serum, 25 patients had B*2705 positive, 1 had B*2702 positive, 1 had B*2702/2708 positive and 1 had B*2705/2708 positive. Among the 25 patients of the B*2705 positive group, 9 patients had arthroncus and arthralgia with fever at the same time; 17 patients had peripheral arthritis, 9 patients had multiple arthritis. Sacroiliac joint lesion manifested on computer tomography (CT) was common and severe. Among the B*2704 positive group, none of them had symptom except arthroncus and arthralgia; 20 of them had peripheral arthritis, 4 of which had multiple arthritis; sacroiliac joint lesion on CT was not common. The difference of sacroiliac joint lesion between the B*2705 group and the B*2704 group was significant with statistical analysis (P<0.005). Conclusion JAS manifestes different clinical situation according to the subtype of HLA-B27. Fever besides arthritis is more common in patients with allele B*2705 positive than patients with B*2704 positive, while the later have better prognosis.