CAJ | 학술논문

目的总结Danon病患者的临床表现、实验检查结果和骨骼肌的组织病理学特点.方法对7例Danon病患者的临床及实验室检查结果进行总结分析.结果 1例未行基因检测,余6例患者溶酶体膜相关蛋白2(lysosomal-associated membrane protein 2)基因均为移码突变.7例患者均为男性,就诊年龄为13～20岁,平均16岁.临床以心脏受累为主,肌力可正常或轻度无力,智力受损常见,2例患者有斜视.患者肌酸激酶升高明显(7/7),超声心动检查提示左室肥厚(5/7)、左室扩张(1/7)、左室肥厚合并左室扩张(1/7).心电图检查提示预激综合征(5/7).肌电图未见异常(2/2).对7例患者均行肌肉活组织检查,可见肌纤维内出现自噬性空泡,dystrophy和spectfin等免疫组织化学染色可见膜阳性空泡和颗粒.3例患者心肌活组织检查可见部分空泡化肌纤维.结论 Danon病多表现为青少年男性起病的肥厚性心肌病,伴肌酸激酶升高,骨骼肌无力和智力低下不突出,往往被忽视而误诊为单纯性肥厚性心肌病.心力衰竭是影响预后的因素.肌肉病理改变与心肌类似,以出现多发膜性自噬空泡为特征,对疾病诊断有较高的提示意义.
목적 총결Danon병환자적림상표현、실험검사결과화골격기적조직병이학특점.방법 대7례Danon병환자적림상급실험실검사결과진행총결분석.결과 1례미행기인검측,여6례환자용매체막상관단백2(lysosomal-associated membrane protein 2)기인균위이마돌변.7례환자균위남성,취진년령위13～20세,평균16세.림상이심장수루위주,기력가정상혹경도무력,지력수손상견,2례환자유사시.환자기산격매승고명현(7/7),초성심동검사제시좌실비후(5/7)、좌실확장(1/7)、좌실비후합병좌실확장(1/7).심전도검사제시예격종합정(5/7).기전도미견이상(2/2).대7례환자균행기육활조직검사,가견기섬유내출현자서성공포,dystrophy화spectfin등면역조직화학염색가견막양성공포화과립.3례환자심기활조직검사가견부분공포화기섬유.결론 Danon병다표현위청소년남성기병적비후성심기병,반기산격매승고,골격기무력화지력저하불돌출,왕왕피홀시이오진위단순성비후성심기병.심력쇠갈시영향예후적인소.기육병리개변여심기유사,이출현다발막성자서공포위특정,대질병진단유교고적제시의의.
Objective To summarize the clinical,laboratory and the muscle histopathology features of patients with Danon disease.Method The clinical documents and laboratory data of 7 patients with Danon disease were analyzed retrospectively.Results Genetic testing was performed in 6 patients and lysosomal-associated membrane protein 2 frame-shift mutations were found.Patients were all male and the age at diagnosis ranged from 13 to 20 years with an average of 16 years.Among the 7 patients,cardiomyopathy was the main clinical manifestation,myopathy was mild or subclinical and mental retardation was common.Besides,2 patients had strabismus.Serum creatine kinase was elevated in all the patients.Echocardiography revealed hypertrophic cardiomyopathy in 5 patients,dilated cardiomyopathy in 1 patient and hypertrophic cardiomyopathy combined with dilated cardiomyopathy in 1 patient.Electrocardiogram revealed pre-excitation syndrome in 5 patients.Electromyogram showed neither myogenic nor neurogenic changes in 2 patients.Autophagic vacuoles in muscle fibers were the character of muscle pathology,and some cytoplasmic vacuoles and granules were positive in dystrophin and spectrin immumohistochemical staining.Endomyocardial biopsy of 3 patients showed extensive vacuoles within some cardiac muscle fibres.Conclusions Danon disease often affects male adolescents,presenting with hypertrophic cardiomyopathy and elevated serum creatine kinase concentration,and myopathy and mental retardation are often mild and can be clinically silent sometimes,which are usually neglected and misdiagnosed as hypertrophic cardiomyopathy.What is more,heart failure is an important predictor of prognosis.Both skeletal and cardiac muscle pathology is characterized by cytoplasmic autophagic vacuoles,even when weakness is not obvious in skeletal muscles.Therefore,skeletal muscle pathology is very important to diagnosis of the disease.