干细胞移植治疗甲羟戊酸尿症1例并文献复习

Stem cell transplantation for mevalonic aciduria:a case report and literature review

对2019年3月首都儿科研究所附属儿童医院风湿免疫科收治的1例行干细胞移植(SCT)治疗的甲羟戊酸尿症(MA)患儿临床资料进行回顾性分析。患儿,女,2岁11个月,以"反复发热2年11个月,双膝关节肿胀9个月"就诊,且存在特殊面容及发育落后,炎症指标、尿甲羟戊酸增高,全外显子检测示MVK基因复合杂合突变,c.439G>A(p.A147T),c.976G>A(p.G326R)。托珠单抗治疗部分有效后接受SCT治疗获得完全缓解。文献复习发现39例MA患儿,多婴幼儿期起病,全身各系统均可受累,神经系统异常、反复发热、肝脾大、体格发育落后、消化道症状、眼部受累对诊断MA有提示意义。10例(包括本例)MA患儿于其他治疗部分有效后接受SCT治疗,7例获得完全缓解。本病例提示对于常规治疗未能获得完全缓解的MA,SCT可能为一种有效治疗方法。

Clinical data of a child with mevalonic aciduria(MA)who underwent stem cell transplantation(SCT)in the Department of Rheumatology and Immunology,Children′s Hospital,Capital Institute of Pediatrics in March 2019 were retrospectively analyzed.A girl aged 2 years and 11 months old presented with recurrent fever for 2 years and 11 months and swelling of both knees for 9 months was enrolled.The child also had specific facial features and development delay.The urinary mevalonic acid and inflammatory factor levels were increased.The whole exome sequencing showed compound heterozygous mutations c.439G>A(p.A147T)and c.976G>A(p.G326R)in theMVK gene.After achieving a partial remission following the treatment of Tocilizumab,the patient was treated with SCT and thus yielded the complete remission.Through literature review of a total of 39 children with MA,most of cases suffer MA since the infancy.All systems can be affected by MA.Clinical manifestations of the nervous system abnormalities,recurrent fever,hepatosplenomegaly,delayed physical development,gastrointestinal symptoms,and eye involvement were helpful for the diagnosis of MA.To date,10 cases(including one case in this study)of MA have been reported to receive SCT after achieving a partial remission of other treatment,and 7 finally achieve a complete remission.This case report provided references that SCT is an effective treatment to children with MA who fail to achieve a complete remission after conventional treatment.