延迟诊断的抗合成酶抗体综合征六例分析

Clinical feature analysis of 6 cases of delayed diagnosis of anti-synthetase antibody syndrome

目的提高对抗合成酶抗体综合征(ASS)的诊断认识。方法回顾性分析2016年1月至2020年2月在无锡市人民医院住院的以其他CTD起病,病程中发现合并ASS的6例患者的临床及实验室特征、及转归情况。结果6例中4例为女性,发病年龄34~72岁,首诊至诊断ASS间隔4~59个月。首诊为SS 2例,RA 1例,MCTD 1例,SSc 1例、未分化CTD(UCTD)1例。首诊时5例有干咳和(或)气喘表现,发热4例,关节炎和雷诺现象3例。ANA、抗SSA 52000抗体阳性5例,ANA以胞质型多见。6例患者首诊时高分辨率CT(HRCT)均已发现肺间质病变(ILD),均为非特异性间质性肺炎(NSIP)型。病程中,患者因出现反复肝酶或肌酶异常3例、新发技工手3例、肺间质病变进展4例反复就诊。进一步完善肌炎抗体检测,发现肌炎特异性抗体阳性。结论ASS可在其他CTD病程中或与其他CTD同时起病,首诊时ILD呈NSIP型、胞质型ANA阳性,抗SSA52000抗体阳性者需警惕,治疗中如果出现反复肝酶和(或)肌酶升高、技工手、肺间质病变进展,需考虑合并ASS可能,肌炎特异性抗体有助于临床ASS诊断。

Objective To improve the diagnosis of anti-synthetase antibody syndrome(ASS)by analyzing the clinical features of 6 patients.Methods Six cases of ASS with complete data were included in this study as they were diagnosed or other CTD during the period of hospitalization in Wuxi People's Hospital from January 2016 to February 2020.Their clinical and laboratory characteristics,and follow-up information were analyzed.Features and changes in the course of disease were analyzed.Results Four out of 6 patients were females,with age of disease onset as 34-72 years,and an interval of 4-59 months from the first diagnosis to the diagnosis of ASS.The first diagnosis was Sjogren's syndrome(SS)in 2 cases,rheumatoid arthritis(RA)in 1 case,mixed connective tissue disease(MCTD)in 1 case,systemic sclerosis(SSc)in 1 case,and undifferentiated connective tissue disease(UCTD)in 1 case.At the first diagnosis,5 cases had dry cough and/or dyspnea,followed by fever(4 cases),arthritis and Raynaud's phenomenon(3 cases).Anti-nuclear antibody(ANA),which was more common in cytoplasmic type,and anti-SSA/52000 antibody were mostly positive(5 cases).The presence of non-specific interstitial pneumonia(NSIP)pattern(6 cases)in high resolution CT(HRCT)was found at the initial diagnosis.During follow-up,patients developed repeated liver function or muscle enzyme abnor-malities(3 cases),mechanic's hand(MH)(3 cases),and lung interstitial disease progression(4 cases).The myositis antibodies were found to be positive.Conclusion ASS can occur in the course of or at the same time as other CTDs.ASS should be considered in patients with interstitiallung disease(ILD)(especially NSIP pattern)in HRCT,and/or positive of cytoplasmic type ANA and/or anti-SSA/52000 antibodies At the same time,if repeated liver function or muscle enzyme abnormalities,new onset of MH,and lung interstitial disease progresses during treatment,consideration may be given to the possibility of complicated ASS.Myositis-specific antibodies are helpful in the diagnosis of ASS.