中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2014年
34期
2684-2686
,共3页
韩凤%韩连书%叶军%邱文娟%张惠文%高晓岚%王瑜%龚珠文%金晶
韓鳳%韓連書%葉軍%邱文娟%張惠文%高曉嵐%王瑜%龔珠文%金晶
한봉%한련서%협군%구문연%장혜문%고효람%왕유%공주문%금정
鸟氨酸氨甲酰转移酶缺乏症%乳清酸%瓜氨酸%高氨血症
鳥氨痠氨甲酰轉移酶缺乏癥%乳清痠%瓜氨痠%高氨血癥
조안산안갑선전이매결핍증%유청산%과안산%고안혈증
Ornithine transcarbamylase deficiency disease%Orotic acid%Citrulline%Hyperammonemia
目的 分析鸟氨酸氨甲酰转移酶缺乏症(OTCD)患者临床表现及生化特点,以便提高临床医师对此病的认识.方法 分析2005至2013年上海交通大学医学院附属新华医院确诊的40例OTCD患者的临床表现、血氨水平、串联质谱检测的血瓜氨酸水平及气相色谱质谱检测的尿乳清酸、尿嘧啶水平,并与25名健康儿童进行比较分析.结果 OTCD患者40例,发病年龄中位数为1.4岁(3 d～29岁),临床表现主要为喂养困难、持续性呕吐、抽搐、意识障碍、高氨血症等.患者血瓜氨酸水平显著低于对照组[6.35 (1.84 ～21.11)比13.65(10.23 ～ 24.52) μmol/L,P＜0.05].尿乳清酸及尿嘧啶水平显著高于对照组[167.77 (1.21 ～1 650.45)比0.25(0～2.32) mmol/molCr、52.67(3.50 ～338.64)比0.69(0～2.87) mmol/molCr,均P＜0.05].结论 对于血氨增高的患者,串联质谱检测血瓜氨酸降低,尿气相色谱质谱检测乳清酸及尿嘧啶升高有助于OTCD诊断.
目的 分析鳥氨痠氨甲酰轉移酶缺乏癥(OTCD)患者臨床錶現及生化特點,以便提高臨床醫師對此病的認識.方法 分析2005至2013年上海交通大學醫學院附屬新華醫院確診的40例OTCD患者的臨床錶現、血氨水平、串聯質譜檢測的血瓜氨痠水平及氣相色譜質譜檢測的尿乳清痠、尿嘧啶水平,併與25名健康兒童進行比較分析.結果 OTCD患者40例,髮病年齡中位數為1.4歲(3 d～29歲),臨床錶現主要為餵養睏難、持續性嘔吐、抽搐、意識障礙、高氨血癥等.患者血瓜氨痠水平顯著低于對照組[6.35 (1.84 ～21.11)比13.65(10.23 ～ 24.52) μmol/L,P＜0.05].尿乳清痠及尿嘧啶水平顯著高于對照組[167.77 (1.21 ～1 650.45)比0.25(0～2.32) mmol/molCr、52.67(3.50 ～338.64)比0.69(0～2.87) mmol/molCr,均P＜0.05].結論 對于血氨增高的患者,串聯質譜檢測血瓜氨痠降低,尿氣相色譜質譜檢測乳清痠及尿嘧啶升高有助于OTCD診斷.
목적 분석조안산안갑선전이매결핍증(OTCD)환자림상표현급생화특점,이편제고림상의사대차병적인식.방법 분석2005지2013년상해교통대학의학원부속신화의원학진적40례OTCD환자적림상표현、혈안수평、천련질보검측적혈과안산수평급기상색보질보검측적뇨유청산、뇨밀정수평,병여25명건강인동진행비교분석.결과 OTCD환자40례,발병년령중위수위1.4세(3 d～29세),림상표현주요위위양곤난、지속성구토、추휵、의식장애、고안혈증등.환자혈과안산수평현저저우대조조[6.35 (1.84 ～21.11)비13.65(10.23 ～ 24.52) μmol/L,P＜0.05].뇨유청산급뇨밀정수평현저고우대조조[167.77 (1.21 ～1 650.45)비0.25(0～2.32) mmol/molCr、52.67(3.50 ～338.64)비0.69(0～2.87) mmol/molCr,균P＜0.05].결론 대우혈안증고적환자,천련질보검측혈과안산강저,뇨기상색보질보검측유청산급뇨밀정승고유조우OTCD진단.
Objective To explore the clinical manifestations and biochemical characteristics of patients with ornithine transcarbamylase deficiency (OTCD) so as to increase the clinician awareness for this disease.Methods The clinical manifestations,blood ammonia levels,citrulline levels,urinary orotic acid and uracil levels were analyzed for 40 patients with OTCD from 2005 to 2013.And comparisons were made with 25 healthy children.Results Among them,the median age of onset was 1.4 years (3 days-29 years).The major clinical manifestations were feeding difficulties,persistent vomiting,convulsions,unconsciousness and hyperammonemia,etc.The blood levels of citrulline in these patients were significantly lower than those of the control group (6.35 (1.84-21.11) vs 13.65 (10.23-24.52) μmol/L,P ＜ 0.05).The urinary levels of orotic acid and uracil in these patients were significantly higher than those in the control group (167.77(1.21-1 650.45) vs 0.25(0-2.32) mmol/molCr,52.67(3.50-338.64) vs 0.69(0-2.87) mmol/molCr,P ＜0.05).Conclusion For patients with hyperammonemia,the decreased levels of citrulline in blood tested by tandem mass spectrometry and increased orotic acid and uracil in urine on gas chromatography-mass spectrometry may aid the diagnosis OTCD.
