目的分析家族性幼年强直性脊柱炎(JAS)的临床表现特点及基因分析,提高对JAS的认识。方法对一家族性AS中57名幼儿、儿童进行体检、血尿常规、生化检测、血清学HLA-B27测定、X光骨盆平片、X光腰椎片、骶骼关节CT等检查,并进行基因及亚型分析。结果被检家族中<16岁57名,RF阴性,CRP8.5mL/dL,血清学HLA-B27阳性8人,临床诊断JAS 2人,均为男性,年龄15、16岁;HLA-B27基因阳性6人(血清学HLA-B27均阳性),检出阳性率明显高于临床诊断JAS者,亚型分析均为HLA-B2704。结论JAS临床症状于年长儿童表现明显,基因分析对早期诊断尤显重要。 Objective To analyze the clinical features and gene analysis of familial juvenile ankylosing spondylitis (JAS) and to improve the understanding of JAS. Methods Fifty-seven children and children in a familial AS were examined by physical examination, hematuria, biochemical tests, serological HLA-B27 test, X-ray pelvic radiograph, X-ray lumbar disc and sacroiliac joint CT. Subtype analysis. Results There were 57 families aged <16 years, RF negative, CRP 8.5 mL / dL, serological HLA-B27 positive, and clinical diagnosis of JAS 2, all of whom were male and 15 and 16 years old. The HLA-B27 positive 6 (serological HLA-B27 were positive), the positive rate was significantly higher than the clinical diagnosis of JAS, subtype analysis were HLA-B2704. Conclusion The clinical symptoms of JAS are obvious in older children. Gene analysis is especially important for early diagnosis.