Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.

Autor: Yalcin K; Bahcesehir University, Medicalpark Goztepe Hospital, Pediatric Bone Marrow Transplantation Unit, Istanbul, Türkiye. koray.ylc@gmail.com.; Acibadem University, Institute of Health Science, Department of Medical Biotechnology, Istanbul, Türkiye. koray.ylc@gmail.com., Uygun V; Istinye University, Medicalpark Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Türkiye., Ozturk Hismi B; Marmara University, Department of Pediatrics, Division of Inherited Metabolic Diseases, Istanbul, Türkiye., Celen S; Bahcesehir University, Medicalpark Goztepe Hospital, Pediatric Bone Marrow Transplantation Unit, Istanbul, Türkiye., Ozturkmen S; Medicalpark Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Türkiye., Zhumatayev S; Medicalpark Goztepe Hospital, Pediatric Bone Marrow Transplantation Unit, Istanbul, Türkiye., Daloglu H; Antalya Bilim University, Medicalpark Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Türkiye., Karasu G; Medicalpark Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Türkiye.; Medicalpark Goztepe Hospital, Pediatric Bone Marrow Transplantation Unit, Istanbul, Türkiye., Yesilipek A; Medicalpark Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Türkiye.; Medicalpark Goztepe Hospital, Pediatric Bone Marrow Transplantation Unit, Istanbul, Türkiye.
Jazyk: angličtina
Zdroj: Bone marrow transplantation [Bone Marrow Transplant] 2024 Oct 14. Date of Electronic Publication: 2024 Oct 14.
DOI: 10.1038/s41409-024-02439-4
Abstrakt: Mucopolysaccharidosis IVA (MPS IVA; Morquio syndrome) is a lysosomal storage disorder and features systemic skeletal dysplasia that is caused by defective Nacetylgalactosamine-6-sulfate sulfatase (GALNS). Although there are convincing data for hematopoietic stem cell transplantation (HSCT) in certain types of MPS, the studies are limited for MPS IVA and more data is still pending to show the efficacy/safety of HSCT. This study included 3 girls and 7 boys, with a median age of 75,5 months (35-186 months), who underwent allogeneic HSCT for severe MPS IVA between February 12, 2021, and March 10, 2023. Enzyme levels, height growth, the most involved organs (ear, eye, and heart), and the activities of daily living (ADL) scoring system were monitored to assess the benefit of HSCT. In a median follow-up of 20 months (9-34 months), there is no severe transplant-related adverse event was observed. In all cases, normal enzyme levels were reached after HSCT. During the short follow-up period, our cases showed an increase in stature and improvement in daily activity functions. Here we present the data of our HSCT experience in MPS IVA with promising results regarding both safety and efficacy. Although there are signs of amelioration with HSCT, we need more data and long-term follow-up to comment properly on the benefits of HSCT in MPS IVA.
(© 2024. The Author(s), under exclusive licence to Springer Nature Limited.)
Databáze: MEDLINE
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