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Longitudinal polysomnographic findings in infantile Pompe disease

Sujay Kansagra1, Stephanie Austin, Stephanie DeArmey

  • 1Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

American Journal of Medical Genetics. Part A
|February 24, 2015
PubMed

Insights

Enzyme replacement therapy (ERT) shows stability in sleep-disordered breathing for infantile Pompe disease patients. This treatment may improve obstructive sleep apnea and central sleep apnea in children with this rare metabolic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Infantile Pompe disease is a rare metabolic disorder caused by acid α-glucosidase deficiency, leading to glycogen accumulation.
  • This deficiency causes multisystem dysfunction, notably neuromuscular weakness and sleep-disordered breathing.
  • Enzyme replacement therapy (ERT) has altered the natural history, enabling longer survival.

Purpose of the Study:

  • To analyze the longitudinal impact of ERT on sleep-disordered breathing in infantile Pompe disease.
  • To assess changes in hypoventilation, obstructive sleep apnea (OSA), and central sleep apnea (CSA) in patients on ERT.

Main Methods:

  • Retrospective analysis of nocturnal polysomnography data.
  • Inclusion of 10 patients with infantile-onset Pompe disease on ERT for a mean of 34.9 months.

Main Results:

  • Sleep-disordered breathing parameters remained relatively stable over time.
  • A trend towards improvement was observed in both obstructive sleep apnea and central sleep apnea.
  • No significant worsening of hypoventilation was noted during ERT.

Conclusions:

  • ERT appears to stabilize, and potentially improve, sleep-disordered breathing in infantile Pompe disease.
  • This suggests ERT may play a beneficial role in managing respiratory complications.
  • Further research is warranted to confirm these findings and optimize treatment strategies.

Keywords:
infantile Pompe diseasenocturnal hypoventilationobstructive sleep apneasleep-disordered breathing

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