【摘要】 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。更多还原

【Abstract】 Objective To explore the clinical manifestations and gene characteristics in junior patients with familial ankylosing spondylitis（AS） and to improve the diagnosis of this disease.Methods Physical examination,blood and urine routine test,biochemistry test,serum HLA-B27,X-ray pelvis film,X-ray Lumbar spine film and sacroiliac joint CT,including the analysis of gene and its subtype,were all monitored in 57 junior and children patients with familial AS.Results It is found in 57 patients that the rheumatoid factor showed negative and CRP was 8.5ml/dL.The serum HLA-B₂₇ were positive in 8 patients out of 57 patients.The numbers of patients clinically diagnosing JAS were 2,which are male patients.The age was 15 and 16 years old,respectively.The numbers of positive HLAB27 gene were 6.The positive rate was significant higher than the numbers of JAS patients with clinical diagnosis.The analysis of subtype presented HLA-B₂₇₀₄. Conclusion The clinical symptoms of JAS were more obvious in senior Children and so the analysis of gene is of great value for early diagnosis.更多还原