CAJ | 학술논문

目的报道1个糖原贮积症Ⅱ型家系并总结其临床特征,提高临床医生对糖原贮积症Ⅱ型早期诊断重要性的认识.方法收集一家系3例青少年型糖原贮积症Ⅱ型患者的临床资料,进行外周血酸性α葡糖苷酶(acid alpha glucosidase,GAA)活性和GAA基因检测.结果患者分别为男性1例、女性2例,Ⅱ1、Ⅱ3、Ⅱ7发病年龄分别为16、17和12岁,均出现进行性四肢近端无力,Ⅱ7和Ⅱ3均较早出现严重的呼吸肌无力,呼吸功能衰竭,依赖呼吸机支持,Ⅱ1也在病程早期表现出呼吸肌无力.Ⅱ7和Ⅱ3的肌酸激酶轻中度升高,符合青少年型糖原贮积症Ⅱ型的临床表现.3例患者外周血白细胞GAA活性均明显低于健康人群.GAA基因测序示3例患者均存在GAA基因的复合杂合突变,即外显子2的无义突变c.241C＞T(p.Gln81X)和外显子16的错义突变c.2238G＞C(p.Trp746 Cys).结论 GAA活性和GAA基因检测对早期诊断糖原贮积症Ⅱ型患者非常重要,且便于遗传咨询及产前诊断.
목적 보도1개당원저적증Ⅱ형가계병총결기림상특정,제고림상의생대당원저적증Ⅱ형조기진단중요성적인식.방법 수집일가계3례청소년형당원저적증Ⅱ형환자적림상자료,진행외주혈산성α포당감매(acid alpha glucosidase,GAA)활성화GAA기인검측.결과 환자분별위남성1례、녀성2례,Ⅱ1、Ⅱ3、Ⅱ7발병년령분별위16、17화12세,균출현진행성사지근단무력,Ⅱ7화Ⅱ3균교조출현엄중적호흡기무력,호흡공능쇠갈,의뢰호흡궤지지,Ⅱ1야재병정조기표현출호흡기무력.Ⅱ7화Ⅱ3적기산격매경중도승고,부합청소년형당원저적증Ⅱ형적림상표현.3례환자외주혈백세포GAA활성균명현저우건강인군.GAA기인측서시3례환자균존재GAA기인적복합잡합돌변,즉외현자2적무의돌변c.241C＞T(p.Gln81X)화외현자16적착의돌변c.2238G＞C(p.Trp746 Cys).결론 GAA활성화GAA기인검측대조기진단당원저적증Ⅱ형환자비상중요,차편우유전자순급산전진단.
Objective In order to improve the clinician' s awareness of the importance of early diagnosis of glycogen storage disease type Ⅱ,we reported a rare pedigree of glycogen storage disease type Ⅱ and summarized the clinical characteristics of it.Methods Clinical data of three patients in a family with juvenile glycogen storage disease type Ⅱ were collected and peripheral blood acid alpha-glucosidase (GAA) activity testing and GAA gene sequencing were performed.Results Three patients (one male and two females) with typical clinical manifestations of the glycogen storage disease type Ⅱ were identified.They all manifested progressive proximal limb weakness with age at onset being 16,17 and 12 years old in Ⅱ1,Ⅱ3 and Ⅱ7,respectively.Ⅱ7 and Ⅱ3 manifested severe respiratory muscles weakness,respiratory failure and ventilator dependency survival at an earlier onset.Ⅱ 1 also manifested moderate respiratory muscles weakness early.The increase of creatine kinase in Ⅱ7 and Ⅱ3 was mild to moderate.The GAA activity of the three patients was significantly lower than normal.A nonsense mutation of c.241 C ＞ T (p.Gln81 X) in exon 2 and a missense mutation of c.2238G ＞ C(p.Trp746Cys) in exon 16 were detected in all of the three patients.Conclusion GAA activity and GAA genetic testing are very important for early diagnosis of glycogen storage disease type Ⅱ and are helpful for clear diagnosis,carriers,genetic counseling and prenatal diagnosis.