4例婴儿型庞贝病临床特点及遗传学分析  

Analysis of Clinical Features and Genotype of Infantile Pompe Disease in Four Patients

作　　者：钟立霖 张杰[2] 董鸿捌 陈云娥 张盛鑫 张艳红 陆妹 ZHONG Li-lin;ZHANG Jie;DONG Hong-ba;CHEN Yun-e;ZHANG Sheng-xin;ZHANG Yan-hong;LU Mei(Department of Pediatrics,Women and Children’s Hospital,School of Medicine,Xiamen University,Xiamen 361003,Fujian Province,China;Department of Radiology,Women and Children’s Hospital,School of Medicine,Xiamen University,Xiamen 361003,Fujian Province,China;Department of Pediatric Intensive Care Unit,Xiamen Children's Hospital,Xiamen 361003,Fujian Province,China;Department of Ultrasound,Women and Children’s Hospital,School of Medicine,Xiamen University,Xiamen 361003,Fujian Province,China)

机构地区：[1]厦门大学附属妇女儿童医院厦门市妇幼保健院儿科,福建厦门361003 [2]厦门大学附属妇女儿童医院厦门市妇幼保健院放射科,福建厦门361003 [3]复旦大学附属儿科医院厦门分院厦门市儿童医院儿科,福建厦门361003 [4]厦门大学附属妇女儿童医院厦门市妇幼保健院超声科,福建厦门361003

出　　处：《罕少疾病杂志》2023年第11期6-8,22,共4页Journal of Rare and Uncommon Diseases

基　　金：厦门市医疗卫生指导性项目(3502Z20199078)。

摘　　要：目的 分析婴儿型庞贝病(Infantile onset Pompe disease,IOPD)患者临床表型、基因表型及结局。方法 回顾性分析厦门大学附属妇女儿童医院(厦门市妇幼保健院)2019年1月-2020年12月4例IOPD患儿的围生期特点、发病/确诊年龄、临床特点、酸性α-葡萄糖苷酶(GAA)活性和基因突变位点、诊治经过及预后。结果 4例IOPD患者均来自南方地区。病例1产时窒息,病例2、4为早产、低出生体重儿。确诊年龄为3月~6+月,3例因支气管肺炎住院时确诊,1例因运动落后、营养不良确诊。4例患者均有氨基末端脑钠肽前体、心肌酶谱异常、心脏增大、心肌增厚等表现。确诊时病例1、3、4射血分数(ejection fra ction,EF)正常,病例2 EF明显下降。4例患者酸性α-葡萄糖苷酶(GAA)活性均明显下降,均携带GAA基因c.1935C>A突变。病例1、2、3家属拒绝酶替代治疗,分别于5、8、4月龄死亡。病例4于4个月余开始阿糖苷酶a替代治疗,心肌肥厚明显好转,多次呼吸道感染,需要无创或有创呼吸机支持,1岁10月时家长放弃治疗死亡。结论 IOPD是一种罕见的严重神经肌肉疾病,发病早,死亡率高,早期酶替代治疗对心脏病变改善明显。Objective To analyzye the clinical features,genotype and outcomes of infantile onset Pompe disease(IOPD).Methods Four patients of IOPD in Women and Children’s Hospital,School of Medicine,Xiamen University from January 2019 to December 2020 were analyzed retrospectively,including the perinatal factors,age of onset and/or diagnosis,clinical features,acidɑ-glucosidase(GAA)activity and genetic analysis,treatment and prognosis.Results All patients were from southwest of Fujian province.Case 1 was asphyxiated after birth,cases 2 and 4 were premature infants with low birth weight.The age of diagnosis ranged from 3 months to more than 6 months.Three cases were diagnosed when they were hospitalized for bronchopneumonia,and one case was diagnosed because of lag behind in motor development and malnutrition.All 4 patients showed increase of N-terminal pro-B type natriuretic peptide,cardiomegaly,and myocardial hypertrophy.Ejection fraction(EF)was normal in case 1 and 3 and 4,but decreased significantly in case 2,at the time of diagnosis.The activity of GAA in the 4 patients was remarkably decreased.c.1935C>A mutation in GAA gene was found in 4 patients.Cases 1 and 2 and 3 died at 5 months and 8 months and 4 months of age respectively,without enzyme replacement therapy(ERT).Case 4 received ERT at more than 4 months,The size of her heart returned to normal,and myocardial hypertrophy improved markedly.Recurrent respiratory tract infections ensued,requiring non-invasive or invasive ventilator support.Her parents gave up treatment and she died at the age of 1 year and 10 months.Conclusions IOPD is a rare and serious neuromuscular disease with early onset and high mortality.Early diagnosis and early ERT can improve the cardiac lesions.

关 键 词：庞贝病 婴儿 基因 酶替代治疗 

分 类 号：R725[医药卫生—儿科]