中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2015年
5期
366-369
,共4页
鸟氨酸氨基酰转移酶缺乏症%尿素循环障碍%高氨血症
鳥氨痠氨基酰轉移酶缺乏癥%尿素循環障礙%高氨血癥
조안산안기선전이매결핍증%뇨소순배장애%고안혈증
Ornithine transcarbamylase deficiency%Urea cycle disorder%Hyperammonemia
目的 探讨鸟氨酸氨基酰转移酶缺乏症(OTCD)相关临床特点及诊断、治疗经验.方法 报告1例安徽省儿童医院2014年收治的鸟氨酸氨基酰转移酶缺乏症患儿临床诊治疗经过,并结合国内外报道的鸟氨酸氨基酰转移酶缺乏症的资料进行文献复习.结果 (1)8岁男童,进食较多鸡蛋后,出现呕吐、意识模糊症状1d.既往有类似病史.血氨2 500μmol/L.疑诊OTCD,给予禁食、高热卡静脉输注、降血氨等治疗,患儿病情进行性加重,最终因脑疝、中枢性心血管功能衰竭而死亡.死亡后尿气相色谱-质谱、血浆氨基酸报告血瓜氨酸、精氨酸降低,尿乳清酸升高,OTC基因突变[OTCc.386G＞A p.(Arg129His)]确诊为OTCD.(2)总结近5年国内外数据库中检索到的明确诊断及有治疗结果的OTCD 65例,发病年龄在3d至49岁;40例有呕吐症状,32例有意识障碍.52例行血氨基酸、尿有机酸检查,均有血瓜氨酸、精氨酸降低,尿乳清酸升高;42例行OTC基因检查,均检测到OTC致病基因位于Xp21.1,致病基因均有基因突变,重复位点较少.55例国外患者资料中,存活53例,死亡2例.10例国内患者资料中,存活3例,4例死亡,3例失联.结论 OTCD常以呕吐、意识障碍起病,有血氨升高,可先临床诊断并治疗,确诊须通过尿气相色谱-质谱、血浆氨基酸检查以及基因检测结果.国内OTCD患者预后差可能与对此类疾病认识度不高有关.
目的 探討鳥氨痠氨基酰轉移酶缺乏癥(OTCD)相關臨床特點及診斷、治療經驗.方法 報告1例安徽省兒童醫院2014年收治的鳥氨痠氨基酰轉移酶缺乏癥患兒臨床診治療經過,併結閤國內外報道的鳥氨痠氨基酰轉移酶缺乏癥的資料進行文獻複習.結果 (1)8歲男童,進食較多鷄蛋後,齣現嘔吐、意識模糊癥狀1d.既往有類似病史.血氨2 500μmol/L.疑診OTCD,給予禁食、高熱卡靜脈輸註、降血氨等治療,患兒病情進行性加重,最終因腦疝、中樞性心血管功能衰竭而死亡.死亡後尿氣相色譜-質譜、血漿氨基痠報告血瓜氨痠、精氨痠降低,尿乳清痠升高,OTC基因突變[OTCc.386G＞A p.(Arg129His)]確診為OTCD.(2)總結近5年國內外數據庫中檢索到的明確診斷及有治療結果的OTCD 65例,髮病年齡在3d至49歲;40例有嘔吐癥狀,32例有意識障礙.52例行血氨基痠、尿有機痠檢查,均有血瓜氨痠、精氨痠降低,尿乳清痠升高;42例行OTC基因檢查,均檢測到OTC緻病基因位于Xp21.1,緻病基因均有基因突變,重複位點較少.55例國外患者資料中,存活53例,死亡2例.10例國內患者資料中,存活3例,4例死亡,3例失聯.結論 OTCD常以嘔吐、意識障礙起病,有血氨升高,可先臨床診斷併治療,確診鬚通過尿氣相色譜-質譜、血漿氨基痠檢查以及基因檢測結果.國內OTCD患者預後差可能與對此類疾病認識度不高有關.
목적 탐토조안산안기선전이매결핍증(OTCD)상관림상특점급진단、치료경험.방법 보고1례안휘성인동의원2014년수치적조안산안기선전이매결핍증환인림상진치료경과,병결합국내외보도적조안산안기선전이매결핍증적자료진행문헌복습.결과 (1)8세남동,진식교다계단후,출현구토、의식모호증상1d.기왕유유사병사.혈안2 500μmol/L.의진OTCD,급여금식、고열잡정맥수주、강혈안등치료,환인병정진행성가중,최종인뇌산、중추성심혈관공능쇠갈이사망.사망후뇨기상색보-질보、혈장안기산보고혈과안산、정안산강저,뇨유청산승고,OTC기인돌변[OTCc.386G＞A p.(Arg129His)]학진위OTCD.(2)총결근5년국내외수거고중검색도적명학진단급유치료결과적OTCD 65례,발병년령재3d지49세;40례유구토증상,32례유의식장애.52례행혈안기산、뇨유궤산검사,균유혈과안산、정안산강저,뇨유청산승고;42례행OTC기인검사,균검측도OTC치병기인위우Xp21.1,치병기인균유기인돌변,중복위점교소.55례국외환자자료중,존활53례,사망2례.10례국내환자자료중,존활3례,4례사망,3례실련.결론 OTCD상이구토、의식장애기병,유혈안승고,가선림상진단병치료,학진수통과뇨기상색보-질보、혈장안기산검사이급기인검측결과.국내OTCD환자예후차가능여대차류질병인식도불고유관.
Objective To discuss the clinical characteristics,diagnosis and treatment management of ornithine transcarbamylase deficiency (OTCD).Method Data of the clinical diagnosis and treatment of a case with OTCD were analyzed,and the domestic and intemational literature was reviewed.Result (1) The case was a boy,8 years old; and the initial symptoms were vomiting and reduced consciousness for a day after eating a lot of eggs as previous similar history.The level of blood ammonia was 2 500 μmol/L.The patient was treated with fasting,high-calorie fluid intravenous infusion,reducing blood ammonia.However,the disease further aggravated and the patient died due to brain hernia and central cardiovascular failure.Finally,he was confirmed as OTCD through urine testing by gas chromatography-mass spectrometry,plasma amino acid examination (plasma arginine and citrullineurine reduced,orotic acid raised) and genetic testing (OTC c.386G ＞ A p.(Arg129His)).(2) Data of 55 case reports about diagnosis and treatment outcome including 65 OTCD cases' clinical data in domestic and abroad reports in nearly 5 years.Their ages ranged from 3 days to 49 years; the common symptoms were vomiting and encephalopathy; both urine tests were positive in 52 cases; pathogenic genes had less repeated loci and located at Xp21.1 in 42 cases detected by OTC gene test; all of which had gene mutation.Conclusion The acute onset OTCD begins with the symptoms of vomiting and unconsciousness,with rapid rise of blood ammonia level.OTCD may cause high mortality.
