中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2013年
3期
194-198
,共5页
黄倬%韩连书%叶军%邱文娟%张惠文%高晓岚%王瑜%季文君%李晓燕%顾学范
黃倬%韓連書%葉軍%邱文娟%張惠文%高曉嵐%王瑜%季文君%李曉燕%顧學範
황탁%한련서%협군%구문연%장혜문%고효람%왕유%계문군%리효연%고학범
甲基丙二酸血症%甲基丙二酸%同型半胱氨酸%羟钴胺%治疗
甲基丙二痠血癥%甲基丙二痠%同型半胱氨痠%羥鈷胺%治療
갑기병이산혈증%갑기병이산%동형반광안산%간고알%치료
Methylmalonic acidemia%Ethylmalonic acid%Homocystine%Hydroxycobalamin%Treatment
目的 分析甲基丙二酸血症合并同型半胱氨酸尿症患者的治疗效果.方法 甲基丙二酸血症合并同型半胱氨酸尿症患者58例,男34例,女24例,其中临床患者50例(早发型42例,迟发型8例),首诊年龄18 d～30.8岁,新生儿筛查8例.治疗方法包括维生素B12、甜菜碱、叶酸、维生素B6及左旋肉碱等.随访内容包括发育情况、常规实验室检测、血氨基酸、酰基肉碱、同型半胱氨酸及尿有机酸水平等.结果 58例患者治疗随访1个月～7.1年,其中死亡3例(早发型患者),其余患者治疗后急性期临床表现及常规生化异常基本恢复正常,其中49例留有不同程度运动语言及智力落后.患者血丙酰肉碱、丙酰肉碱与乙酰肉碱比值、同型半胱氨酸及尿甲基丙二酸水平中位数由治疗前的7.73 μmol/L、0.74、97.3 μmol/L及168.55降至随访时的2.74 μmol/L、0.16、43.8 μmol/L及6.81,差异均有统计学意义(Z=6.345、6.624、5.246、6.624,P均＜0.01).结论 甲基丙二酸血症合并同型半胱氨酸尿症患者经羟钴胺及其他药物综合治疗后,临床表现及血尿生化异常显著改善,但多数患者仍有运动语言及智力落后.
目的 分析甲基丙二痠血癥閤併同型半胱氨痠尿癥患者的治療效果.方法 甲基丙二痠血癥閤併同型半胱氨痠尿癥患者58例,男34例,女24例,其中臨床患者50例(早髮型42例,遲髮型8例),首診年齡18 d～30.8歲,新生兒篩查8例.治療方法包括維生素B12、甜菜堿、葉痠、維生素B6及左鏇肉堿等.隨訪內容包括髮育情況、常規實驗室檢測、血氨基痠、酰基肉堿、同型半胱氨痠及尿有機痠水平等.結果 58例患者治療隨訪1箇月～7.1年,其中死亡3例(早髮型患者),其餘患者治療後急性期臨床錶現及常規生化異常基本恢複正常,其中49例留有不同程度運動語言及智力落後.患者血丙酰肉堿、丙酰肉堿與乙酰肉堿比值、同型半胱氨痠及尿甲基丙二痠水平中位數由治療前的7.73 μmol/L、0.74、97.3 μmol/L及168.55降至隨訪時的2.74 μmol/L、0.16、43.8 μmol/L及6.81,差異均有統計學意義(Z=6.345、6.624、5.246、6.624,P均＜0.01).結論 甲基丙二痠血癥閤併同型半胱氨痠尿癥患者經羥鈷胺及其他藥物綜閤治療後,臨床錶現及血尿生化異常顯著改善,但多數患者仍有運動語言及智力落後.
목적 분석갑기병이산혈증합병동형반광안산뇨증환자적치료효과.방법 갑기병이산혈증합병동형반광안산뇨증환자58례,남34례,녀24례,기중림상환자50례(조발형42례,지발형8례),수진년령18 d～30.8세,신생인사사8례.치료방법포괄유생소B12、첨채감、협산、유생소B6급좌선육감등.수방내용포괄발육정황、상규실험실검측、혈안기산、선기육감、동형반광안산급뇨유궤산수평등.결과 58례환자치료수방1개월～7.1년,기중사망3례(조발형환자),기여환자치료후급성기림상표현급상규생화이상기본회복정상,기중49례류유불동정도운동어언급지력락후.환자혈병선육감、병선육감여을선육감비치、동형반광안산급뇨갑기병이산수평중위수유치료전적7.73 μmol/L、0.74、97.3 μmol/L급168.55강지수방시적2.74 μmol/L、0.16、43.8 μmol/L급6.81,차이균유통계학의의(Z=6.345、6.624、5.246、6.624,P균＜0.01).결론 갑기병이산혈증합병동형반광안산뇨증환자경간고알급기타약물종합치료후,림상표현급혈뇨생화이상현저개선,단다수환자잉유운동어언급지력락후.
Objective Combined methylmalonic acidemia with homocystinuria is a common form of methylmalonic acidemia in China.Patients with this disease can progress to death without timely and effective treatment.This study aimed to analyze the treatment outcomes of patients with combined methylmalonic acidemia and homocystinuria.Method From September 2004 to April 2012,58 patients with combined methylmalonic acidemia and homocystinuria (34 males and 24 females) were diagnosed and treated in our hospital.Fifty cases were from clinical patients including 42 early-onset cases and 8 late-onset cases.Their age when they were diagnosed ranged from 18 days to 30.8 years.The other 8 cases were from newborn screening.All the patients were treated with vitamin B12,betaine,folic acid,vitamin B6,and Lcarnitine.The physical and neuropsychological development,general laboratory tests,the levels of amino acids,acylcarnitines,and homocysteine in blood,and organic acids in urine were followed up.Result The follow-up period ranged from 1 month to 7.1 years.Three cases died (all were early-onset cases).In the other patients after treatment,the symptoms such as recurrent vomiting,seizures,lethargy,and poor feeding disappeared,muscle strength and muscle tension were improved,and general biochemical abnormalities such as anemia and metabolic acidosis were corrected.Among the surviving 55 cases,49 had neurological impairments such as developmental delay and mental retardation.The median levels of blood propionylcarnitine and its ratio with acetylcarnitine,serum homocysteine,and urine methylmalonic acid were significantly decreased (P ＜0.01),from 7.73 μmol/L (ranged from 1.5 to 18.61 μmol/L),0.74 (ranged from 0.29 to 2.06),97.3 μmol/L (ranged from 25.1 to 250 μmol/L) and 168.55 (ranged from 3.66 to 1032.82) before treatment to 2.74 μmol/L (ranged from 0.47 to 12.09 μmol/L),0.16 (ranged from 0.03 to 0.62),43.8 μmol/L (ranged from 17 to 97.8 μmol/L) and 6.81 (ranged from 0 to 95.43)after treatment,respectively.Conclusion Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin,betaine,folic acid,vitamin B6 and L-carnitine with clinical and biochemical improvement.But the long-term outcomes are unsatisfactory,with neurological sequelae in most patients.
