Stem cell transplantation for mevalonic aciduria: a case report and literature review
10.3760/cma.j.cn101070-20221124-01328
- VernacularTitle:干细胞移植治疗甲羟戊酸尿症1例并文献复习
- Author:
Ming LI
1
;
Jianming LAI
;
Gaixiu SU
;
Tao HU
;
Rong LIU
Author Information
1. 首都儿科研究所附属儿童医院风湿免疫科，北京 100020
- Keywords:
Mevalonic aciduria;
Stem cell transplantation;
MVK gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(8):611-614
- CountryChina
- Language:Chinese
-
Abstract:
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 the MVK 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.
