摘要
目的探讨儿童全羧化酶合成酶缺乏症(HLCSD)的临床表现、诊断、治疗及预后。方法回顾分析1例HLCSD患儿的临床表现、实验室检查,并通过二代基因测序分析患儿及家系成员外周血基因突变情况。结果患儿,女,4月龄起病,主要表现为反复顽固性皮疹。体液免疫检查示Ig系列全系下降,血串联质谱示3-羟基异戊酰基肉碱水平明显升高,尿气相质谱显示乳酸、3-羟基异戊酸、丙酮酸等明显升高。二代基因测序发现,患儿HLCS基因的第9号和第11号外显子上发现了突变位点c.1544G>A(S515N),c.1993C>T(R665X),为杂合突变,其中R665X为新发突变。其父母分别为基因突变携带者。结论 HLCSD临床表现不典型,对于难治性皮疹伴神经系统异常、生长发育障碍、持续性酸中毒、高乳酸血症等表现者,应考虑HLCSD可能,通过血串联质谱、尿气相质谱分析和基因筛查可尽早确诊。
Objective To explore the clinical manifestations,diagnosis,treatment and prognosis of holocarboxylase synthetase deficiency(HLCSD)in children.Method The clinical manifestations and laboratory tests results in a child with HLCSD were retrospectively analyzed.Genetic mutations in peripheral blood of the child and her family members were analyzed by second-generation gene sequencing.Results The girl presented with recurrent refractory rash and the age at onset was 4 months.Humoral immunity showed a decrease in the level of total immunoglobulins.Blood tandem mass spectrometry showed a marked increase in the level of 3-hydroxy-isovalyl carnitine.Urine gas chromatography mass spectrometry showed a significant increase in lactic acid,3-hydroxy-isovaleric acid and pyruvic acid.The second-generation gene sequencing revealed that there were heterozygous mutations of c.1544G>A(S515N)and c.1993C>T(R665X)in exon 9 and 11 of the HLCS gene in the child,and R665X was a new mutation.His parents are genetic mutation carriers.Conclusions The clinical manifestations of HLCSD are atypical.For children having refractory rash with neurological abnormalities,growth and development disorders,persistent acidosis,hyperlactacidemia and other manifestations,HLCSD should be suspected,and the diagnosis can be confirmed early by blood tandem mass spectrometry,urine gas chromatography mass spectrometry and gene screening.
作者
殷志萍
王怡仲
张婷
肖咏梅
YIN Zhiping;WANG Yizhong;ZHANG Ting;XIAO Yongmei(Department of Gastroenterology,Hepatology,and Nutrition,Shanghai Children’s Hospital Affiliated to Shanghai Jiao Tong University,Shanghai 200062,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第10期745-747,共3页
Journal of Clinical Pediatrics
关键词
全羧化酶合成酶缺乏症
临床特点
基因诊断
holocarboxylase synthetase deficiency
clinical manifestation
genetic diagnosis