CAJ | 학술논문

目的：分析糖原贮积病Ⅱ型婴儿型与晚发型的临床特点。方法回顾性分析我院PICU 2013年至2014年收治的5例糖原贮积病Ⅱ型患儿的临床资料，总结分析婴儿型与晚发型的临床表现和预后。结果5例糖原贮积病Ⅱ型患儿中，3例为婴儿型，首发症状有呼吸困难、心肌肥厚、肝脏增大及骨骼肌无力，α-葡萄糖苷酶A浓度降低，2例完善基因检测，1例框移突变合并错义突变，1例2处错义突变。3例婴儿型均出现心律失常，2例死于致死性心律失常，1例行酶替代疗法，随访存活。2例为晚发型，首发症状为呼吸困难，肌力、肌张力低下，α-葡萄糖苷酶浓度降低，2例未作基因检测。1例呼吸机辅助通气，合并多种感染，肺炎加重无法脱离呼吸机，家属放弃治疗。1例死于心律失常。结论婴儿型以心肌肥厚、肝脏增大、肌张力低下为首发症状，病情进展快，病死率高，易并发致死性心律失常；晚发型以呼吸衰竭、四肢近端肌无力为主要发病症状，易产生呼吸机依赖合并多重感染。二者均以综合治疗为主，酶替代治疗一定程度上可以改善婴儿型的临床症状。
목적：분석당원저적병Ⅱ형영인형여만발형적림상특점。방법회고성분석아원PICU 2013년지2014년수치적5례당원저적병Ⅱ형환인적림상자료，총결분석영인형여만발형적림상표현화예후。결과5례당원저적병Ⅱ형환인중，3례위영인형，수발증상유호흡곤난、심기비후、간장증대급골격기무력，α-포도당감매A농도강저，2례완선기인검측，1례광이돌변합병착의돌변，1례2처착의돌변。3례영인형균출현심률실상，2례사우치사성심률실상，1례행매체대요법，수방존활。2례위만발형，수발증상위호흡곤난，기력、기장력저하，α-포도당감매농도강저，2례미작기인검측。1례호흡궤보조통기，합병다충감염，폐염가중무법탈리호흡궤，가속방기치료。1례사우심률실상。결론영인형이심기비후、간장증대、기장력저하위수발증상，병정진전쾌，병사솔고，역병발치사성심률실상；만발형이호흡쇠갈、사지근단기무력위주요발병증상，역산생호흡궤의뢰합병다중감염。이자균이종합치료위주，매체대치료일정정도상가이개선영인형적림상증상。
Objective To investigate the clinical manifestations ofi nfantile and late-onset glycogen sot rage diseaes type Ⅱ.Mte hods We analyzed the cliin calm anifestations and prognosiso f infantile and late-onset glcy ogen storage disease type Ⅱ with a retrospective analysis of five cases admitted in PICU of Shengjing Hospital of China Medical University from 2013 to 2014.Resulst Firsts ymptoms of three infan-tile cases were dyspnea,cardiac hypertrophy,hepatomegaly,skeletal muscle weakness and low concentration of α-glucosidase A.Two cases completed gene detection.One case had frameshift mutation and missense mu-tation,and the other had two missense mutatoi n.Three infantile csa es all showed arrhythmia performance. Two cases died of fat l arrhythmia.One caes received ne zyme replacement therapy and survived.The main symptoms of two al te-onset cases who had not get gene detection were dyspnea,low muscle strength,muscle hypotonia and low concentration of ca idα-gluco sidase.One case receivedm echanicla ventilation,complicated with multiple infections,severe pneumonia andv entilator dependence,finally gave up the treatment.The other died of cardiac arrhythmia.Concluis on Infantile cases have the major symptoms of myocardial hypert o-phy,hepatomegaly,low muscular tension with rapid progression,high mortality and fatal arrhythmia.Late-on-set cases have the clinical features of respiratory failure,proximal limb muscle weakness and be susceptible to ventilator dependence and multiple infections.Enzyme replacement therapy can improve the clinical symp-toms of infantile cases.