CAJ | 학술논문

目的报道1例因预防接种诱发急性脑病的中国甲基丙二酸尿症的cblA型病例.方法就病例临床、血液酯酰肉碱谱、尿有机酸、甲基丙二酸尿症相关基因等特点进行分析.结果患儿男,1岁3个月时因“间断呕吐、酸中毒、发育落后8个月”就诊.患儿生后7个月内发育正常,7个月时接种乙肝疫苗后lh出现呕吐、昏迷.临床诊断“中度脱水,电解质紊乱,代谢性酸中毒”,经补液等治疗后好转.此后,患儿发育落后,间断呕吐.1岁3个月时接种百白破疫苗,接种3h后再次出现呕吐,嗜睡,静脉补液后未见好转,7d后喘憋、呼吸困难、昏迷.患儿血液丙酰肉碱16.3μmol/L(参考值1.0 ～ 5.0μmol/L)、丙酰肉碱/游离肉碱0.27(参考值0.03 ～0.25)增高,尿甲基丙二酸(388.21 mmol/mol肌酐,参考值0.2～3.6 mmol/mol肌酐)及其代谢产物浓度显著增高,血浆总同型半胱氨酸浓度正常,符合单纯型甲基丙二酸血症,MMAA基因存在c.650 T＞A(p.L217X)和c.742 C＞T(p.Q248X)复合杂合突变,确诊为cblA型.经羟钴铵肌内注射、左卡尼汀、低蛋白饮食及特殊配方奶粉治疗后,患儿病情逐渐好转.患儿现2岁7个月,智力运动正常.结论报道我国首例因预防接种诱发急性脑病的cblA型甲基丙二酸尿症.对疑似遗传代谢病患儿,预防接种前的代谢筛查是减少意外的关键.
목적 보도1례인예방접충유발급성뇌병적중국갑기병이산뇨증적cblA형병례.방법 취병례림상、혈액지선육감보、뇨유궤산、갑기병이산뇨증상관기인등특점진행분석.결과 환인남,1세3개월시인“간단구토、산중독、발육락후8개월”취진.환인생후7개월내발육정상,7개월시접충을간역묘후lh출현구토、혼미.림상진단“중도탈수,전해질문란,대사성산중독”,경보액등치료후호전.차후,환인발육락후,간단구토.1세3개월시접충백백파역묘,접충3h후재차출현구토,기수,정맥보액후미견호전,7d후천별、호흡곤난、혼미.환인혈액병선육감16.3μmol/L(삼고치1.0 ～ 5.0μmol/L)、병선육감/유리육감0.27(삼고치0.03 ～0.25)증고,뇨갑기병이산(388.21 mmol/mol기항,삼고치0.2～3.6 mmol/mol기항)급기대사산물농도현저증고,혈장총동형반광안산농도정상,부합단순형갑기병이산혈증,MMAA기인존재c.650 T＞A(p.L217X)화c.742 C＞T(p.Q248X)복합잡합돌변,학진위cblA형.경간고안기내주사、좌잡니정、저단백음식급특수배방내분치료후,환인병정축점호전.환인현2세7개월,지력운동정상.결론 보도아국수례인예방접충유발급성뇌병적cblA형갑기병이산뇨증.대의사유전대사병환인,예방접충전적대사사사시감소의외적관건.
Objective We report the first case of acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA in China.Method The clinical presentation,blood acylcarnitines analysis,urine organic acids analysis and gene studies of the patient were summarized.Result The proband,a boy,was admitted at the age of 15 months because of recurrent vomiting,acidosis and development delay for 8 months.The previously healthy boy presented vomiting and coma just one hour after hepatitis B vaccination at the age of seven months.Moderate dehydration,electrolyte disturbance and metabolic acidosis had been found.Although his acute metabolic crisis had been corrected soon after intravenous transfusion,psychomotor retardation and recurrent vomiting had been observed.When he was 15 months old,vomiting and lethargy occurred again 3 hours after DTaP vaccination.He was weakened as the illness became worse and got coma with dyspnea 7 days later.He was hospitalized with the suspected diagnosis of viral encephalitis.Blood acylcarnitines analysis,urine organic acids analysis and gene study had been performed for the etiologic investigation.His blood propionylcarnitine (16.3 μmol/L vs.normal range 1.0-5.0 μmol/L) and propionylcarnitine/free carnitine ratio (0.27 vs.normal range 0.03 to 0.25)increased.Markedly elevated urinary methylmalonic acid (388.21 mmol/mol creatinine vs.normal range 0.2 to 3.6 mmol/mol creatinine) and normal plasma total homocysteine supported the diagnosis of isolated methylmalonic aciduria.Two mutations,c.650 T ＞ A (p.L217X) and c.742 C ＞ T (p.Q248X),were identified in his MMAA gene,confirmed the diagnosis of cblA.Each parent carried one of the two mutations.Progressive clinical and biochemical improvement has been observed after hydroxylcobalamin injection,protein-restricted diet with the supplements of special formula and L-carnitine.He is currently 2 years and 7 months old with normal development and general condition.Conclusion A boy with cblA was firstly detected after the acute encephalopathy induced by vaccination in China.It is important to pay more attention to the patients with metabolic crisis or organ damage after vaccination.Metabolic studies are keys to the diagnosis of potential diseases and improve the outcome.