CAJ | 학술논문

目的总结分析国内糖原累积病Ⅱ型(Pompe病)患者的临床表现及疾病转归的特点.方法回顾性分析17例经酶学确诊的糖原累积病Ⅱ型患者临床资料,通过设计临床调查表进行电话随访,总结归纳临床和转归特点.结果 17例糖原累积病Ⅱ型患者中,4例为婴儿型,生后2～6个月发病,均有肌酶升高和心脏受累,伴或不伴呼吸肌受累.4例均未进行治疗.其余13例为晚发型,发病年龄2～22岁,均有肌酶升高.其中11例以肌肉无力起病,2例表现为呼吸肌受累,2例表现为脊柱侧弯,1例表现为肌酶高伴肝功能异常.除3例曾接受呼吸机辅助治疗外,其余10例未接受相关治疗.全部患者α-1,4-葡萄糖苷酶活性数值均低于正常人10％以下；14例行病理肌活检检测,9例提示糖原累积病Ⅱ型；10例行基因检测,6例检测到2个致病突变.成功电话随访12例,随访率70％.婴儿型4例中,3例在3岁之内死于呼吸衰竭,存活的1例目前1岁7个月.成功随访的晚发型8例中,4例于发病3～5年死亡,均死于呼吸衰竭,存活的4例中3例自觉肌肉无力症状加重,1例自住院时使用呼吸机治疗,至今病情无明显改变.12例随访者中7例死亡,总死亡率58％.结论糖原累积病Ⅱ型在临床表现上存在差异.婴儿型表现为全身性肌肉无力,心脏受累明显,病情凶险,死亡率高.晚发型以慢性进行性肌肉无力,呼吸功能不全为主.经α-1,4-葡萄糖苷酶活性测定、肌肉活检以及基因检测诊断.患者的预后与发病年龄、有无呼吸肌受累相关.
목적 총결분석국내당원루적병Ⅱ형(Pompe병)환자적림상표현급질병전귀적특점.방법 회고성분석17례경매학학진적당원루적병Ⅱ형환자림상자료,통과설계림상조사표진행전화수방,총결귀납림상화전귀특점.결과 17례당원루적병Ⅱ형환자중,4례위영인형,생후2～6개월발병,균유기매승고화심장수루,반혹불반호흡기수루.4례균미진행치료.기여13례위만발형,발병년령2～22세,균유기매승고.기중11례이기육무력기병,2례표현위호흡기수루,2례표현위척주측만,1례표현위기매고반간공능이상.제3례증접수호흡궤보조치료외,기여10례미접수상관치료.전부환자α-1,4-포도당감매활성수치균저우정상인10％이하；14례행병리기활검검측,9례제시당원루적병Ⅱ형；10례행기인검측,6례검측도2개치병돌변.성공전화수방12례,수방솔70％.영인형4례중,3례재3세지내사우호흡쇠갈,존활적1례목전1세7개월.성공수방적만발형8례중,4례우발병3～5년사망,균사우호흡쇠갈,존활적4례중3례자각기육무력증상가중,1례자주원시사용호흡궤치료,지금병정무명현개변.12례수방자중7례사망,총사망솔58％.결론 당원루적병Ⅱ형재림상표현상존재차이.영인형표현위전신성기육무력,심장수루명현,병정흉험,사망솔고.만발형이만성진행성기육무력,호흡공능불전위주.경α-1,4-포도당감매활성측정、기육활검이급기인검측진단.환자적예후여발병년령、유무호흡기수루상관.
Objective To analyze and summarize the characteristics of glycogen storage disease type Ⅱ ( Pompe disease) patients according to the clinical description and prognosis.Method Seventeen Chinese patients diagnosed by acid alpha-glucosidase ( GAA ) enzyme activity test were reviewed.Clinical data tables were designed.Interviews were made via phone calls.Information was collected to reach the objective.Result Four of 17 patients diagnosed by acid alpha-glucosidase are infantile-onset,symptoms started between 2 to 6 months after birth with increased serum creatine kinase and cardiac problems,with or without respiratory concerns.Other 13 patients were later-onset cases,and their symptoms started between 2 to 22 years of age with increased serum creatine kinase.Eleven later-onset patients started with muscle weakness,2 patients developed respiratory insuffciency,2 patients showed scoliosis,and 1 patient expressed increased serum creatine kinase with abnormal liver function.Just 3 of the later-onset patients were treated with mechanical ventilator and adjuvant therapy,others were not.All patients' acid alphaglucosidase (GAA) enzyme activity analysis showed lower than 10％ of normal.Fourteen patients were tested by muscle biopsy pathology,and 9 of them progressed to glycogen storage disease type Ⅱ ; 10 patients received genetic analysis,and 6 of them had two mutations which cause the disorder.Twelve of the 17 patients were interviewed successfully.In 3 of the infant-onset patients the disease resulted in death from respiratory failure,and 1 is still alive at the age of 1 year and 7 months.In 4 of 8 later-onset patients the disease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms.Three of 4 survivers had increased muscle weakness,and 1 patient kept alive with ventilator without any changes.Seven of 12 interviewed patients died,the mortality rate was 58.3％.Conclusion Glycogen storage disease type Ⅱ (Pompe disease ) present differently in the clinic. Infant-onset Pompe disease is mainly characterized by generalized muscle weakness and obvious cardiac involvement.It's a dangerous disease,with high mortality rate.Later-onset Pompe disease is characterized by chronic proximal muscle weakness and respiratory insufficiency.GAA enzyme activity analysis,muscle biopsy and genetic analysis used to support the diagnosis of Pompe disease.Prognosis of the disease depends on age of onset and respiratory muscle involvement.