摘要
目的分析cblB型甲基丙二酸血症(methylmalonic acidemia,MMA)患者的临床表现、基因变异类型、生化结果、治疗效果及预后情况,以探讨此型MMA患者临床特征及预后。方法回顾性分析2016年5月至2019年12月上海交通大学医学院附属新华医院小儿内分泌遗传科诊治的4例cblB型MMA患者的临床表现、生化资料、基因测序结果及治疗情况,并使用盖泽尔发育诊断量表、贝利婴儿发展量表对3例患者进行发育评估。结果4例患者中男性1例、女性3例,均通过新生儿筛查确诊,1例患者生后出现黄疸、酸中毒、低血糖、低血钾后失访,其余3例患者随访至13~43月龄。基因检测发现6种变异,其中c.383T>C(p.L128P)为未报道变异。2例患者的基因变异类型与晚发型相关且维生素B12治疗有效,携带新变异的患者对维生素B12治疗无效。3例患者早期得到治疗,目前发育情况正常或处于边缘状态。结论cblB型MMA患者临床异质性明显、病情轻重不一,维生素B12治疗对部分患者有效。新生儿筛查有助于此病的早期诊断、治疗及预后。
ObjectiveTo investigate the clinical characteristics and prognosis of cbl B type methylmalonic acidemia(MMA)by analyzing the clinical manifestation,genetic mutation types,biochemical results,therapeutic efficacy and prognosis.MethodsThe clinical data of 4 patients with cbl B type MMA diagnosed in Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,from May 2016 to December 2019 were analyzed retrospectively.The clinical data included the clinical characteristics,biochemical results,genetic sequencing data and treatment.Gesell developmental diagnosis scale and Bayley scale of infant development were used to evaluate the developmental condition of 3 patients.ResultsFour patients(1 male,3 females)were diagnosed by screening newborns.During the follow-up,1 patient was lost,who had jaundice,acidosis,hypoglycemia and hypokalemia after birth.The other 3 patients were followed up to 13-43 months of age.Six mutations were identified by genetic sequencing,of which c.383 T>C(p.L128 P)was a novel mutation.Two patients with a type of gene mutation which was correlated with late onset were vitamin B12-responsive.Nevertheless,for patient who carried a novel mutation,vitamin B12 treatment was ineffective.All three patients with early treatment were developing normally or at borderline state.ConclusionThe clinical phenotype of cbl B type MMA is with obvious heterogeneity.The condition may be mild or severe.Some patients are clinically vitamin B12-responsive.Newborn screening is essential to the early diagnosis,treatment and outcome of patients.
作者
帅瑞雪
于玥
韩连书
叶军
梁黎黎
龚珠文
高晓岚
顾学范
SHUAI Rui-xue;YU Yue;HAN Lian-shu(Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai Institute for Pediatric Research,Shanghai 200092,China;Department of Pediatrics,Changzheng Hospital,Naval Medical University,Shanghai 200092,China;不详)
出处
《中国实用儿科杂志》
CSCD
北大核心
2020年第11期891-895,共5页
Chinese Journal of Practical Pediatrics
基金
科技部国家重点研发计划课题(2016YFC0901505)。
