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[Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
Zhonghua Er Ke Za Zhi 2012; 50(6):415-9ZE

Abstract

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 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%.

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.

Authors+Show Affiliations

Department of Pediatrics, Chinese Academy of Medical Sciences, Beijing , China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

22931935

Citation

Zhang, Han-bing, et al. "[Clinical Sequelae of 17 Cases With Glycogen Storage Disease Type II/Pompe Disease]." Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, vol. 50, no. 6, 2012, pp. 415-9.
Zhang HB, Zhang WM, Qiu JJ, et al. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease]. Zhonghua Er Ke Za Zhi. 2012;50(6):415-9.
Zhang, H. B., Zhang, W. M., Qiu, J. J., Meng, Y., & Qiu, Z. Q. (2012). [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 50(6), pp. 415-9.
Zhang HB, et al. [Clinical Sequelae of 17 Cases With Glycogen Storage Disease Type II/Pompe Disease]. Zhonghua Er Ke Za Zhi. 2012;50(6):415-9. PubMed PMID: 22931935.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease]. AU - Zhang,Han-bing, AU - Zhang,Wei-min, AU - Qiu,Jia-jing, AU - Meng,Yan, AU - Qiu,Zheng-qing, PY - 2012/8/31/entrez PY - 2012/8/31/pubmed PY - 2013/3/15/medline SP - 415 EP - 9 JF - Zhonghua er ke za zhi = Chinese journal of pediatrics JO - Zhonghua Er Ke Za Zhi VL - 50 IS - 6 N2 - 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 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%. 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. SN - 0578-1310 UR - https://www.unboundmedicine.com/medline/citation/22931935/[Clinical_sequelae_of_17_cases_with_glycogen_storage_disease_type_II/Pompe_disease]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0578-1310&year=2012&vol=50&issue=6&fpage=415 DB - PRIME DP - Unbound Medicine ER -