Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis

Czech version

Authors: Formánková Renata ¹; Říha Petr ¹; Keslová Petra ¹; Ješina Pavel ²; Honzík Tomáš ²; Magner Martin ²; Starý Jan ¹; Sedláček Petr ¹; Zeman Jiří ²
Authors‘ workplace: Klinika dětské hematologie a onkologie, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice v Motole, Praha ¹; Klinika pediatrie a dědičných poruch metabolismu, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice, Praha ²
Published in: Čes-slov Pediat 2022; 77 (5): 276-283.
Category: Original Papers
doi: https://doi.org/10.55095/CSPediatrie2022/044

Overview

Objective: Evaluation of the results of hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM) and malignant infantile osteopetrosis (MIOP) in the Czech Republic from the beginning of the transplant programme in 1989 to the present.

Methods: In the period 1/1993 to 12/2021 a total of 31 allogeneic HSCTs were performed at the University Hospital Motol in 22 patients with IEM and 5 patients with MIOP. Patients were transplanted from HLA identical sibling (MSD), matched unrelated donor (MUD) or mismatched family donor (MMFD). The source of stem cells was bone marrow (BM), peripheral blood stem cells (PBSC) or umbilical cord blood (UCB). The conditioning regimen was used in accordance with the IEWP-EBMT (Inborn Errors Working party – European Bone Marrow Transplant).

Results: 22 patients with IEM and 5 patients with MIOP underwent the first allogeneic HSCT at the median age of 19,5 months. Engraftment after the first transplant was documented in 24 of 27 patients (89 %). Three patients underwent retransplantation for primary or secondary graft failure. Acute graft-versus-host disease (GVHD) was documented in 11 patients (41 %), severe form of aGVHD gr. III in 1 patient and chronic GVHD in 1 patient, respectively. A total of 6 patients died, 3 patients due to transplant-related mortality, 2 patients from disease progression, respectively and 1 patient died after a successful transplant due to complications of neurosurgery. The overall survival is 78 %, 21 of 27 patients are alive with a median follow-up of 169 months after transplantation (12-347 months), 20 of them with improvement or stabilization of the disease.

Conclusions: HSCT is currently the standard therapy for selected IEM and MIOP. This procedure has become much safer during recent decades, timely diagnosis and indication for HSCT are essential. The treatment requires multidisciplinary management and continuous collaboration with other specialists.

Keywords:

Inborn errors of metabolism – hematopoietic stem cell transplantation – mucopolysaccharidosis – adrenoleucodystrophy – malignant infantile osteopetrosis

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