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Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report

Background: Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder of bone metabolism, primarily affecting the remodelling function of osteoclasts. Haematopoietic stem cell transplantation (HSCT) is the first-line treatment for ARO. Traditional tools for the assessment of therapeutic res...

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Autores principales: Horváth, Máté, Horváth, Orsolya, Kassa, Csaba, Kertész, Gabriella, Goda, Vera, Hau, Lidia, Stréhn, Anita, Kállay, Krisztián, Kriván, Gergely
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137119/
https://www.ncbi.nlm.nih.gov/pubmed/37189924
http://dx.doi.org/10.3390/children10040675
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author Horváth, Máté
Horváth, Orsolya
Kassa, Csaba
Kertész, Gabriella
Goda, Vera
Hau, Lidia
Stréhn, Anita
Kállay, Krisztián
Kriván, Gergely
author_facet Horváth, Máté
Horváth, Orsolya
Kassa, Csaba
Kertész, Gabriella
Goda, Vera
Hau, Lidia
Stréhn, Anita
Kállay, Krisztián
Kriván, Gergely
author_sort Horváth, Máté
collection PubMed
description Background: Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder of bone metabolism, primarily affecting the remodelling function of osteoclasts. Haematopoietic stem cell transplantation (HSCT) is the first-line treatment for ARO. Traditional tools for the assessment of therapeutic response, such as measuring donor chimerism, do not provide information on bone remodelling. The use of bone turnover markers (BTMs) might be ideal. Here, we report a case of a paediatric ARO patient undergoing successful HSCT. Methods: For the evaluation of donor-derived osteoclast activity and skeletal remodelling throughout the transplantation, the bone resorption marker β-CTX (β-C-terminal telopeptide) was used. Results: The low baseline level of β-CTX markedly increased after transplantation and remained in the elevated range even after 3 months. Donor-derived osteoclast activity reached its new baseline level around the 50th percentile range after 5 months and proved to be stable during the 15-month follow-up time. The apparent increase of the baseline osteoclast activity after HSCT was in consonance with the radiographic improvement of the disease phenotype and the correction of bone metabolic parameters. Despite the successful donor-derived osteoclast recovery, craniosynostosis developed, and reconstructive surgery had to be performed. Conclusions: The use of β-CTX may be of aid in assessing osteoclast activity throughout the transplantation. Further studies could help to establish the extended BTM profile of ARO patients using the available osteoclast- and osteoblast-specific markers.
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spelling pubmed-101371192023-04-28 Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report Horváth, Máté Horváth, Orsolya Kassa, Csaba Kertész, Gabriella Goda, Vera Hau, Lidia Stréhn, Anita Kállay, Krisztián Kriván, Gergely Children (Basel) Case Report Background: Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder of bone metabolism, primarily affecting the remodelling function of osteoclasts. Haematopoietic stem cell transplantation (HSCT) is the first-line treatment for ARO. Traditional tools for the assessment of therapeutic response, such as measuring donor chimerism, do not provide information on bone remodelling. The use of bone turnover markers (BTMs) might be ideal. Here, we report a case of a paediatric ARO patient undergoing successful HSCT. Methods: For the evaluation of donor-derived osteoclast activity and skeletal remodelling throughout the transplantation, the bone resorption marker β-CTX (β-C-terminal telopeptide) was used. Results: The low baseline level of β-CTX markedly increased after transplantation and remained in the elevated range even after 3 months. Donor-derived osteoclast activity reached its new baseline level around the 50th percentile range after 5 months and proved to be stable during the 15-month follow-up time. The apparent increase of the baseline osteoclast activity after HSCT was in consonance with the radiographic improvement of the disease phenotype and the correction of bone metabolic parameters. Despite the successful donor-derived osteoclast recovery, craniosynostosis developed, and reconstructive surgery had to be performed. Conclusions: The use of β-CTX may be of aid in assessing osteoclast activity throughout the transplantation. Further studies could help to establish the extended BTM profile of ARO patients using the available osteoclast- and osteoblast-specific markers. MDPI 2023-04-03 /pmc/articles/PMC10137119/ /pubmed/37189924 http://dx.doi.org/10.3390/children10040675 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Horváth, Máté
Horváth, Orsolya
Kassa, Csaba
Kertész, Gabriella
Goda, Vera
Hau, Lidia
Stréhn, Anita
Kállay, Krisztián
Kriván, Gergely
Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
title Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
title_full Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
title_fullStr Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
title_full_unstemmed Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
title_short Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
title_sort bone turnover marker for the evaluation of skeletal remodelling in autosomal recessive osteopetrosis after haematopoietic stem cell transplantation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137119/
https://www.ncbi.nlm.nih.gov/pubmed/37189924
http://dx.doi.org/10.3390/children10040675
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