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Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI

Assel Tulebayeva1, Maira Sharipova2, Riza Boranbayeva2

  • 1Children's diseases Department, S.D. Asfendiyarov Kazakh National Medical University, Karagandy A05H2A6, Kazakhstan.

Diagnostics (Basel, Switzerland)
|January 30, 2020
PubMed

Insights

Mucopolysaccharidosis (MPS) patients often experience pulmonary dysfunction, primarily restrictive. Enzyme replacement therapy showed potential for improving respiratory function in some individuals with this rare genetic disorder.

Area of Science:

  • Pediatrics
  • Genetics
  • Pulmonology

Background:

  • Mucopolysaccharidosis (MPS) is a rare genetic disorder characterized by glycosaminoglycan (GAG) accumulation.
  • GAG deposition in airways causes progressive pulmonary dysfunction, with varying patterns observed globally.
  • Limited research exists on respiratory complications in Asian MPS populations, necessitating regional studies.

Purpose of the Study:

  • To investigate pulmonary impairment in patients with Mucopolysaccharidosis (MPS) in Kazakhstan.
  • To characterize the types of pulmonary dysfunction present in MPS patients.
  • To evaluate the impact of enzyme replacement therapy (ERT) on respiratory function.

Main Methods:

  • A prospective study involving 11 patients diagnosed with MPS.
  • Comprehensive respiratory function assessments were conducted.
  • Patients received enzyme replacement therapy (ERT) for an average of four years.

Main Results:

  • All studied MPS patients exhibited respiratory dysfunction, predominantly restrictive.
  • One patient with MPS II presented with obstructive dysfunction.
  • ERT led to improved respiratory function in two patients, with complete normalization in one.

Conclusions:

  • Pulmonary impairment is a significant issue in MPS patients, often manifesting as restrictive lung disease.
  • Regular pulmonary function monitoring is crucial for children with MPS.
  • ERT may offer benefits for respiratory health in MPS patients.
Keywords:
Kazakhstanenzyme-replacement therapymucopolysaccharidosispulmonary dysfunctionrespiratory dysfunction

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