title: [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
abstract: OBJECTIVE
  To analyze and summarize the characteristics of glycogen storage disease type II (Pompe disease) patients according to the clinical description and prognosis.
  
  
  METHODS
  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.
  
  
  RESULTS
  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 insufficiency, 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 alpha-glucosidase (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 survivors 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%.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Chinese Academy of Medical Sciences, Beijing , China.
authors.forename: Han-bing
authors.initials: HB
authors.lastname: Zhang
authors.forename: Wei-min
authors.initials: WM
authors.lastname: Zhang
authors.forename: Jia-jing
authors.initials: JJ
authors.lastname: Qiu
authors.forename: Yan
authors.initials: Y
authors.lastname: Meng
authors.forename: Zheng-qing
authors.initials: ZQ
authors.lastname: Qiu
mesh_terms: D000293:Adolescent; D001706:Biopsy; D009202:Cardiomyopathies / Q000453:epidemiology* / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D005500:Follow-Up Studies; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D018908:Muscle Weakness / Q000453:epidemiology* / Q000209:etiology; D011379:Prognosis; D012131:Respiratory Insufficiency / Q000453:epidemiology; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D003402:Creatine Kinase; D005087:Glucan 1,4-alpha-Glucosidase