Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Growth hormone treatment for children with mucopolysaccharidosis I or II

  • Minji Im (Department of Pediatrics, CHA Gangnam Medical Center, CHA University) ;
  • Chiwoo Kim (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine) ;
  • Juyoung Sung (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Insung Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ji-Hoon Hwang (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Min-Sun Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sung Yoon Cho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2023.12.10
  • Accepted : 2023.12.20
  • Published : 2023.12.31
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Abstract

Purpose: Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the safety and efficacy of recombinant human growth hormone (hGH) treatment in children diagnosed with MPS I or II. Materials and Methods: A total of nine pediatric patients-four with MPS I and five with MPS II-underwent treatment with ERT and hGH at Samsung Medical Center. Results: The mean hGH dose administered was 0.26±0.03 mg/kg/week. In the MPS I group, three patients showed an increase in height Z-score from -4.09±0.83 to -3.68±0.43 after 1 year of hGH treatment, and to -3.10±0.72 by the end of the hGH regimen. In the MPS II group, while the height Z-score of four patients decreased according to standard growth charts, it improved from 1.61±1.79 to 2.71±1.68 based on the disease-specific growth chart through hGH treatment. Two patients discontinued hGH treatment due to lack of efficacy after 22 and 6 months each of treatment, respectively. No new-onset neurological symptoms or necessity for prosthetic or orthopedic surgery were reported during hGH treatment. Conclusion: This study provides insights into the impact of hGH on MPS patients, demonstrating its potential to reverse growth deceleration in some cases. Further research is needed to explore the long-term effects of hGH on changes in body composition, muscle strength, and bone health in this population.

Keywords

Acknowledgement

We wish to thank all the individuals who are living with rare diseases, their families, and the clinical and research laboratory staff.

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