重度贫血，营养不良，肌张力低下，意识障碍进行性加重，是甲基丙二酸血症还是丙酸血症？  

Severe anemia, malnutrition, hypotonia and aggravation of the conscious disturbance, methyl malonic acidemia or propionic acidemia？

作　　者：刘舒[1] 骆明勇[2] 梁金群[1] 陈暖[1] 欧阳海梅[1] 曾伟宏[1] 谢汛杰 陈丽莹[1] 江剑辉[1] 

机构地区：[1]广东省妇幼保健院儿童遗传代谢与内分泌科,广州511400 [2]广东省妇幼保健院医学遗传中心,广州511400

出　　处：《中华实用儿科临床杂志》2017年第20期1575-1579,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：广东省中医药局科研项目（20171030）;广东省科技研究项目（2014A020212246）

摘　　要：患儿，女，21 d，因＂少吃、少哭、少动1 d＂由外院转入广东省妇幼保健院。患儿主要表现为肌张力减低，意识障碍进行性加重，全血细胞减少及难以纠正的酸中毒、高氨血症，考虑遗传代谢性疾病的可能。送检血尿标本进行遗传代谢病筛查和基因检测，并积极对症治疗。新一代基因测序发现，PCCB基因1个新的纯合框移突变c.838_839insC （L280Pfs＊11），突变数据库未见报道，生物信息学分析提示为致病突变，患儿确诊为丙酸血症。患儿病情危重，虽经积极治疗，但患儿意识障碍程度仍逐渐加重，自主呼吸消失，最后并发肺炎死亡。丙酸血症是一种较为常见的新生儿遗传代谢性疾病，该病临床表现复杂多样，诊断困难。临床上遇到以发育落后、肌张力低下、反复抽搐、呕吐等为表现，不能以常见疾病解释的患儿，需要考虑该病可能。新一代测序方法可快速进行基因诊断，为后期精确治疗打下坚实的基础。The patient was a 21 days-old baby girl, admitted to Guangdong Women and Children Hospital because of ＂ poor intake, seldom crying and no activity in 1 day＂ . The major clinical manifestations included hypotonia, aggravation of the conscious disturbance, pancytopenia, intractable acidosis and hyperammonemia, so, inherited metabolic disorders should be considered.Screening of inherited metabolic diseases with blood and urine samples, genetic test and active treatments were carried out.After targeted next-generation sequencing, a novel homozygotic frame shift mutation in PCCB gene： c.838_839insC （L280Pfs＊11） was identified, which was validated by Sanger sequencing.This mutation had not been reported in the mutation database, and bioinformatic analysis of this mutation indicated disease-causing.So, the diagnosis of propionic acidemia was identified.The baby was in a critical condition, and despite active treatment, her conscious disturbance was aggravated, and the spontaneous breathing disappeared.Subsequently, the baby died of pneumonia.Propionic acidemia is a relatively common genetic metabolic disease in newborns.The severity and the clinical phenotypes of propionic acidemia varied, which often made the diagnosis difficult.When the baby is presented with developmental delay, hypotonia, recurrent convulsion and vomiting, etc, which can′t be explained by common diseases of children, propionic acidemia may be considered.Next generation sequencing analysis of the complicated cases can easily to pinpoint a disease-causing gene, which lays a solid foundation for accurate diagnosis and treatment of the patients.

关 键 词：严重贫血 营养不良 肌张力低下 意识障碍 丙酸血症 基因突变 

分 类 号：R722.1[医药卫生—儿科]