摘要
目的探讨甲基丙二酸血症(MMA)与肺动脉高压的关系。方法回顾分析2例合并型MMA并发肺动脉高压患者的临床特点及基因特征,并复习相关文献,进行总结。结果2例患儿均尿甲基丙二酸水平升高及血同型半胱氨酸(Hcy)升高,符合合并型MMA的诊断;均具有肺动脉高压,并伴有持续性的肾脏损伤,其中1例伴有球形红细胞增多症,1例伴有眼球震颤。2例患儿基因检测显示均有MMACHC基因突变.故为CblC缺陷型,1例基因突变型为:c.80A>G(p.Gln27Arg)/c.609G>A(p.Trp203Ter)杂合型,1例为c80A>G(p.Gln27Arg)/c.637G>T(p.Glu213Ter)杂合型,均最终死于肺动脉高压。结论儿童及青少年不明原因肺动脉高压应注意遗传代谢疾病的筛查,特别是对MMA的筛查。
Objective To explore the relationship between methylmalonic acidemia(MMA)and pulmonary hypertension.Methods A retrospective analysis of 2 patients was carried out for clinical and genetic characteristics.Relevant literatures were reviewed and summarized.Results Metabolic screening showed MMA and hyperhomocysteinemia in two patients,which accorded with the diagnosis of combined MMA.Pulmonary hypertension and persistent renal abnormality were presented in both patients.One patient was accompanied with spherocytosis,and the other patient concurrently suffered from nystagmus.Both genetic analysis revealed a heterozygous MMACHC mutation(Cobalamin C type).The gene mutation of Case 1 was identified as c.80 A>G(p.Gln27 Arg)/c.609 G>A(p.Trp203 Ter),and the gene mutation of Case 2 was identified as c80 A>G(p.Gln27 Arg)/c.637 G>T(p.Glu213 Ter).Two patients died of pulmonary hypertension.Conclusion The screening of genetic metabolic diseases,especially MMA,should be performed for children and adolescents with unexplained pulmonary hypertension.
作者
安袁笑雪
赵玉英
赵翠芬
许瑞英
薛玉文
AN Yuanxiaoxue;ZHAO Yuying;ZHAO Cuifen;XU Ruiying;XUE Yuwen(Department of Pulmonary and Critical Care Medicine,Qilu Hospital of Shandong University,Jinan 250012,Shandong,China;Department of Neurology,Qilu Hospital of Shandong University,Jinan 250012,Shandong,China;Department of Pediatrics,Qilu Hospital of Shandong University,Jinan 250012,Shandong,China)
出处
《山东大学学报（医学版）》
CAS
北大核心
2021年第10期101-107,共7页
Journal of Shandong University:Health Sciences
作者简介
通讯作者:薛玉文.E-mail:xueyuwenqilu@163.com;通讯作者:许瑞英.E-mail:xurysd@163.com。
