预防接种诱发先天缺陷患儿急性代谢危象病例研究

Acute Metabolic Crisis Induced by Vaccination in Patients of Inherited Endocrine Metabolic Disorders

目的 回顾了7例预防接种诱发急性代谢危象的遗传代谢、内分泌疾病患儿的临床经过。方法 对7例(男性5例、女性2例)患儿的临床经过、实验室特点、诊疗与转归进行分析。结果 7例患者儿分别于接种乙型脑炎、百白破、乙型肝炎、麻疹疫苗后3～12h出现急性代谢紊乱。例1、2于5岁、3个月时接种疫苗后出现急性肾上腺危象,血浆17-羟孕酮均明显增高,符合2 1-羟化酶缺乏症失盐型。例3出生后运动发育落后,3个月时接种疫苗,10h后抽搐、昏迷,伴酮症、代谢性酸中毒,经尿有机酸分析证实为甲基丙二酸尿症。例4～7接种前发育正常,于5～9个月接种疫苗后发热、抽搐、昏迷,伴代谢性酸中毒、低血糖,经对症治疗虽有好转,但智力严重倒退,全身瘫痪,于1～2岁来院接受病因分析。例4为戊二酸尿症1型。例5～7为Leigh综合征,分别于1岁半左右死于呼吸衰竭。死亡后尸体解剖发现双侧基底节、脑干多灶性坏死伴海绵样变性,神经细胞严重丢失,毛细血管和星形胶质细胞增生。结论 报告了7例因预防接种诱发急性代谢危象的病例。其中2例为2 1-羟化酶缺乏症,5例为遗传代谢病患儿,6例患儿预防接种前原发病未获诊。虽然疫苗本身不是致病原因,但诱发了急性发作。建议对营养发育异常的患儿慎重接种,及早进行详细病因调查,明确原发病。

Objectives To describe the c li nical course of patients with acute metabolic crisis induced by vaccination in t hose with inherited metabolic or endocrine disorders. Method s The clinical features,laboratory findings,diagnosis,treatm ent and outcome were reviewed in 7 patients(5 boys and 2 girls).Only one boy wi th 21-hydroxylase deficiency(21-OHD)was diagnosed previously when he was 1 month old.Others,whose diagnosis were confirmed after hospitalization through endoc rinological tests,urine organic acid analysis,blood acylcarnitine profiles or brain MR imaging.Two patients had positive famil y history. Results Acute metabolic crisis occurred at 3-12 hours after Japanese encephalitis,diphtheria and tetanus toxoi ds and acellular pertussis(DTaP),hepatiti s B or measles vaccine administration in 7 patients.Case one and two had acute a drenal insufficiency.Vomiting,dehydration,hyperkalemia,hyponatremia and mark ed elevation of serum 17-hydroxyprogesterone were found in those cases.21-OHD w as diagnosed in the two patients.After hydrocortisone and fludrocortisone suppl ementations,they felt better than before.But case two of acute adrenal cr isis induced by pneumonia when she was one year old.Case 3-7 received vaccine w hen they were 3-9 months old.Case three had mild movement retardation previously with s eizures,coma,metabolic acidosis and ketosis at 10 hours after vacination.Meth y lmalonic aciduria was confirmed by urine organic acid analysis.The boy died at the age of two years because of severe metabolic acidosis.Case 4-7 had norm al development previ o usly.Three patients suffered from fever,seizures,coma,acidosis and hypoglyce mia after vaccination at the age of 5-9 months.Although they got better after allop a thic treatment,severe psychomotor retardation and general palsy remained.Gluta ri c aciduria type 1 was detected in case 4 at the age of 2 years.Leigh syndrome w a s found in case 5-7 at the age of 1 year.Three babies died in respiratory failu r e when they were one and half years old.Typical pathological findings,such as sy mmetrical foci,cystic cavitations with neuronal loss,vascular proliferation,w ere observed by autopsy. Conclusions Careful etiological investigation would be hel pful both for the patients with malnutrition and psychomotor retardation before vaccination to prevent the accidents and explain the causes of adverse events.