Reporting 7 Pompe Patients in Iran

Document Type : Case Series

Authors

1 MSc Student, Department of Laboratory Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

2 Assistant Professor, Department of Community and Family Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

3 Associate Professor, Department of Clinical Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Pompe is a progressive and rare disease with major form (infantile form) resulted from lack of lysosomal alpha-glucosidase enzyme. This disease inherits in an autosomal recessive form and contains spectrum of different symptoms based on the age of onset. The variety of symptoms has seen in this disease like muscle weakness, cardio pulmonary problems, disability in daily routine works, and so on.Case Report: In this case study, we studied the characteristics of 7 established patients in Iran recognized from 8 years ago. The age range of these patients was from 6 months to 28 years.Conclusion: Different diagnosis time in patients, which is important, in this study was between 6 months to 28 years, which could cause many problems in patients whom their diagnosis was delayed.

Keywords

References

  1. Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004; 63(9): 1688-92.
  2. Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008; 38(4): 1236-45.
  3. Ashrafi MR, Tavasoli AR. Infantile-onset Pompe disease. Iran J ChildNeurol 2012; 4(Suppl 1): 7-9.
  4. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148(5): 671-6.
  5. Hirschhorn R, Reuser AJ. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill; 2001. p. 3389-420.
  6. Gungor D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, et al. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis 2016; 39(2): 253-60.
  7. Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe disease on ERT: Update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet 2012; 160C(1): 69-79.
  8. Tecellioglu M, Kamisli O. Familial Pompe disease. Med Arch 2015; 69(5): 342-4.
  9. Wagner KR. Enzyme replacement for infantile Pompe disease: the first step toward a cure. Neurology 2007; 68(2): 88-9.
  10. Kikuchi T, Yang HW, Pennybacker M, Ichihara N, Mizutani M, Van Hove JL, et al. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 1998; 101(4): 827-33.
Journal of Isfahan Medical School
Volume 35, Issue 424 - Serial Number 424
January and February 2017
Pages 364-367

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History

  • Receive Date: 24 December 2016
  • Revise Date: 01 November 2024
  • Accept Date: 06 April 2022

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