Impact of hematopoietic stem cell transplantation on growth outcomes in mucopolysaccharidosis: a systematic review.

Abstract

Mucopolysaccharidosis (MPS) is a group of genetic disorders characterized by defective lysosomal enzyme activity that can result in growth abnormalities and other complications. Hematopoietic stem cell transplantation (HSCT), especially bone marrow transplantation (BMT), aims to restore enzyme function and improve growth parameters in patients with MPS. This systematic review evaluates the impact of HSCT on growth outcomes, including height, weight, body mass index (BMI), head circumference, and pubertal development, in pediatric patients with MPS. Using the PRISMA (Preferred Reporting Items for Systematic reviews and Meta-analyses) guidelines, we systematically searched the PubMed, Embase, Scopus, and Web of Science databases. The retrieved studies focused on the growth outcomes of patients with MPS treated with HSCT emphasizing the role of BMT. Study quality was assessed using the Newcastle-Ottawa Scale and Joanna Briggs Institute checklist. The study protocol was registered in PROSPERO (registration no. CRD42024571488). These findings indicate that HSCT improves height, weight, and BMI, and better outcomes were observed in patients who underwent early transplantation. However, many patients still experience declining height z scores, resulting in short stature in adulthood, an elevated BMI, disproportionate head growth, and, in some cases, precocious puberty or pubertal arrest. Therefore, ongoing monitoring and personalized care are necessary to address these long-term growth challenges.