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Longitudinal polysomnographic findings in infantile Pompe disease.

Publication ,  Journal Article
Kansagra, S; Austin, S; DeArmey, S; Kazi, Z; Kravitz, RM; Kishnani, PS
Published in: Am J Med Genet A
April 2015

Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile-onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow-up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort.

Duke Scholars

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

April 2015

Volume

167A

Issue

4

Start / End Page

858 / 861

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Sleep Apnea Syndromes
  • Retrospective Studies
  • Polysomnography
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Glucan 1,4-alpha-Glucosidase
  • Female
 

Citation

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Kansagra, S., Austin, S., DeArmey, S., Kazi, Z., Kravitz, R. M., & Kishnani, P. S. (2015). Longitudinal polysomnographic findings in infantile Pompe disease. Am J Med Genet A, 167A(4), 858–861. https://doi.org/10.1002/ajmg.a.37007
Kansagra, Sujay, Stephanie Austin, Stephanie DeArmey, Zoheb Kazi, Richard M. Kravitz, and Priya S. Kishnani. “Longitudinal polysomnographic findings in infantile Pompe disease.Am J Med Genet A 167A, no. 4 (April 2015): 858–61. https://doi.org/10.1002/ajmg.a.37007.
Kansagra S, Austin S, DeArmey S, Kazi Z, Kravitz RM, Kishnani PS. Longitudinal polysomnographic findings in infantile Pompe disease. Am J Med Genet A. 2015 Apr;167A(4):858–61.
Kansagra, Sujay, et al. “Longitudinal polysomnographic findings in infantile Pompe disease.Am J Med Genet A, vol. 167A, no. 4, Apr. 2015, pp. 858–61. Pubmed, doi:10.1002/ajmg.a.37007.
Kansagra S, Austin S, DeArmey S, Kazi Z, Kravitz RM, Kishnani PS. Longitudinal polysomnographic findings in infantile Pompe disease. Am J Med Genet A. 2015 Apr;167A(4):858–861.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

April 2015

Volume

167A

Issue

4

Start / End Page

858 / 861

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Sleep Apnea Syndromes
  • Retrospective Studies
  • Polysomnography
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Glucan 1,4-alpha-Glucosidase
  • Female