ACP5基因突变致椎体软骨发育不良伴免疫调节异常1例并文献复习  

Spondyloenchondrodysplasia with immune dysregulation caused by ACP5 gene mutation: a case report and literature review

作　　者：史佩佩[1] 王华[1] 张建江[1] 刘镇 曾慧勤[1] 王淼[1] 张花婷 Shi Peipei;Wang Hua;Zhang Jianjiang;Liu Zhen;Zeng Huiqin;Wang Miao;Zhang Huating(Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University,Henan Province Clinical Center of Pedia-tric Nephrology,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院儿科,河南省儿童肾脏病临床诊疗中心,郑州450052

出　　处：《中华实用儿科临床杂志》2022年第1期50-53,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：河南省医学科技攻关计划项目(SB201901042)。

摘　　要：目的总结ACP5基因突变致椎体软骨发育不良伴免疫调节异常(SPENCDI)患儿的临床表型及基因表型。方法回顾性分析2017年2月23日郑州大学第一附属医院儿科1例SPENCDI患儿的临床资料及基因表型。以"椎体软骨发育不良伴免疫调节异常"、"spondyloenchondrodysplasia"为检索词,检索万方数据库、中国知网、PubMed数据库,进行文献复习。采用χ^(2)检验比较不同突变患儿间的因素。结果患儿,女,4.5岁,2岁时因发热伴冻疮样皮疹就诊,诊断为系统性红斑狼疮(SLE)伴狼疮性肾炎,予激素联合环磷酰胺、吗替麦考酚酯治疗。治疗中出现频繁感染、血小板下降、跛行、生长落后。基因检测发现ACP5基因复合杂合突变:c.779C>A,c.770T>C。确诊SPENCDI,随访中。文献检索到78例SPENCDI患者,临床表现多样,均有骨骼受累、免疫表型;抗核抗体阳性者73.08%,抗双链DNA(ds-DNA)抗体阳性者57.69%,34.62%有神经系统症状。58例基因检测示ACP5基因突变,其中纯和突变44例,复合杂合突变14例。ACP5基因纯和突变患者中父母近亲婚配率更高[56.82%(25/44例)比14.29%(2/14例)],复合杂合突变患者更易合并SLE[64.29%(9/14例)比34.09%(15/44例)](χ^(2)=7.722、3.992,均P<0.05)。结论SPENCDI患儿ACP5基因纯和突变多见,复合杂合突变少见。临床表现多样且复杂,好发自身免疫性疾病,且临床表型和基因表型不一定相关。Objective To summarize the clinical features and gene phenotype of children with spondyloenchondrodysplasia with immune dysregulation(SPENCDI)caused by ACP5 gene mutation.Methods The medical data and genetic phenotype of a child diagnosed with SPENCDI in the Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University in February 23,2017 were analyzed retrospectively.Besides,"spondyloenchondrodysplasia"were taken as the search terms to perform the retrieval in CNKI,Wanfang Data,and PubMed,in an attempt to conduct the literature review.χ^(2) test was used to compare the factors among children with different mutations.Results The 4.5-year-old girl was admitted to hospital for complaint of"fever and chilblain-like rash"when she was 2 years old.She was diagnosed with systemic lupus erythematosus(SLE)concomitant with lupus nephritis.Methylprednisolone combined with cyclophosphamide,mycophenolate mofetil was used for the treatment.However,she experienced multiple infections,thrombocytopenia,limp,and growth retardation during the treatment.Genetic detection identified ACP5 gene compound hybrid mutation:c.779C>A and c.770T>C.She was diagnosed with SPENCDI,and was subjected to follow-up.A total of 78 SPENCDI patients were retrieved from the databases,with various clinical manifestations of SPENCDI,commonly with skeletal involvement and immune phenotypes;73.08%of the cases were positive for antinuclear antibodies,57.69%of cases were positive for anti-double stranded-DNA antibodies and 34.62%of cases had neurological symptoms.In 58 cases,ACP5 gene mutations were detected,including 44 homozygous mutations and 14 compound heterozygous mutations.Patients with ACP5 gene homozygous mutation had a higher probability of consanguineous marriage in parents[56.82%(25/44 cases)vs.14.29%(2/14 cases)];patients with ACP5 gene heterozygous mutation were more likely to develop SLE[64.29%(9/14 cases)vs.34.09%(15/44 cases)](χ^(2)=7.722,3.992;all P<0.05).Conclusions The majority of the ACP5 gene mutations are homozygous mu

关 键 词：椎体软骨发育不良 免疫调节 异常 ACP5基因 儿童 系统性红斑狼疮 

分 类 号：R725.9[医药卫生—儿科]