线粒体神经胃肠脑肌病(MNGIE)是一种罕见的常染色体隐性遗传疾病。ECGF1基因的突变导致胸苷磷酸化酶(TP)严重缺乏,从而增加血液中的胸苷和脱氧尿苷,血清,和组织。这些产品的毒性水平导致线粒体呼吸链和线粒体DNA的功能障碍。通常,患者在15~20岁之间出现症状(范围为5个月~35岁).最常见的受影响的系统是胃肠道,其次是眼,和神经系统。该疾病通常是致命的;据报道,20至40岁之间的死亡率很高。可以增加胸苷磷酸化酶活性并减少胸苷和脱氧尿苷的治疗方式显示出MNGIE患者的症状改善。血小板输注,血液透析,已尝试腹膜透析或异基因造血干细胞移植(HSCT)。这些措施的生存和长期益处仍不清楚。干细胞移植后的移植患者的血清胸苷和脱氧尿苷有所改善。我们报道了一起来自沙特阿拉伯的MNGIE病例,他们接受了异基因造血干细胞移植。以前没有沙特阿拉伯或海湾阿拉伯国家报告过MNGIE病例。从现有文献来看,到目前为止,只有11名MNGIE患者接受了干细胞移植。
Mitochondrial neurogastrointestinal encephalomyopathy (
MNGIE) is a rare autosomal recessive disorder. The mutation in the ECGF1 gene causes severe deficiency of thymidine phosphorylase (TP), which in turn increases thymidine and deoxyuridine in the blood, serum, and tissue. The toxic levels of these products cause malfunction of the mitochondrial respiratory chain and mitochondrial DNA. Commonly, patients become symptomatic between 15 and 20 years of age (range 5 months to 35 years). The most commonly affected systems are gastrointestinal, followed by ocular, and nervous system. The disease is often fatal; high mortality rate is reported between 20 and 40 years of age. Treatment modalities that can increase thymidine phosphorylase activity and decrease thymidine and deoxy-uridine have shown symptomatic improvements in patients with
MNGIE. Platelet transfusion, hemodialysis, peritoneal dialysis or allogeneic hematopoietic stem cell transplantation (HSCT) have been tried. The survival and long-term benefits of these measures are still not clear. Engrafted patients after stem cell transplantation have showed improvements in serum thymidine and deoxyuridine. We are reporting a case of
MNGIE from Saudi Arabia, who underwent allogeneic hematopoietic stem cell transplantation. No
MNGIE case has been previously reported from Saudi Arabia or the Gulf Arab countries. From the available literature, so far only 11 patients with
MNGIE have undergone stem cell transplantation.