MAFB基因变异致多中心腕跗骨骨质溶解综合征1例报告并文献复习  

Multicentric carpotarsal osteolysis caused by mutation of MAFB gene:a case report and literature review

作　　者：徐曦盛 邹丽霞[1] 卢美萍[1] XU Xisheng;ZOU Lixia;LU Meiping(Department of Rheumatology Immunology and Allergy,The Children’s Hospital,Zhejiang University School of Medical,National Clinical Research Center for Child Health,Hangzhou 310058,Zhejiang,China)

机构地区：[1]浙江大学医学院附属儿童医院风湿免疫过敏科,国家儿童健康与疾病临床医学研究中心,浙江杭州310058

出　　处：《临床儿科杂志》2021年第11期839-842,共4页Journal of Clinical Pediatrics

基　　金：国家自然科学基金资助项目(No.82070027)。

摘　　要：目的探究多中心腕跗骨骨质溶解综合征(MCTO)的临床及遗传学特征。方法报告1例经基因检测确诊的MCTO患儿的临床资料,并复习相关文献。结果患儿,女,12岁3个月。3岁3个月时出现左踝、双腕及掌指关节肿痛,诊断为幼年特发性关节炎(JIA),但长期抗风湿治疗效果不佳,并逐渐出现左上肢变短,2年前出现蛋白尿。X线示左侧腕、跗骨进行性溶解破坏。全外显子基因检测示MAFB基因c.206C>T(p.S69L)杂合变异,确诊为MCTO。结论MCTO以腕、跗骨进行性骨质溶解为主要特征,易与JIA混淆,可伴有进行性肾衰竭,早期表现为蛋白尿,基因检测为确诊的重要手段。Objective To explore the clinical and genetic characteristics of multicentric carpotarsal osteolysis(MCTO).Methods The clinical data of a MCTO patient was retrospectively analyzed and related literature was reviewed.Results The patient is a 12 years and 3 months old girl,initially suffered from swelling and pain in the left ankle,wrist,and metacarpophalangeal joints at age of 3 years and 3 months.She was diagnosed with juvenile idiopathic arthritis(JIA)and received long-term antirheumatic treatment but with few effects.Subsequently,she presented with shortened left arm.She developed persistent proteinuria 2 years ago.Imaging examination indicated bone destruction of the left carpal and left wrist.Whole exome sequencing revealed a heterozygous mutation of c.206 c>T(p.S69L)in MAFB gene and the diagnosis of MCTO was made.Electronic systemic searches were conducted in PubMed,Wanfang,and CNKI databases,and 15 articles were selected.We reviewed 60 patients including this case.Carpus(100%),phalanges(94.1%),elbow joints(64.7%),knee joints(44.1%),hip joints(14.7%),and shoulder joints(8.8%)were commonly involved.Forty-one patients had kidney involvement of different degrees,and 13 patients received kidney transplantation.At present,a total of 18 missense mutations have been reported.Conclusion Patients with MCTO are characterized by progressive osteolytic diseases of the carpus and tarsal bones,which can be confused with JIA.Patients may present with proteinuria in the early stage followed by progressive renal failure.The genetic test is essential for diagnosis.

关 键 词：多发性骨质溶解综合征 蛋白尿 MAFB基因 罕见病 

分 类 号：R725.9[医药卫生—儿科]