Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase

Autores
Parisi, Muriel Solange; Mastaglia, Silvina Rosana; Bagur, Alicia Cristina; Goldstein, Griselda; Zeni, Susana Noemi; Oliveri, María Beatriz
Año de publicación
2007
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Bone involvement is one of the most disabling complications in patients with type 1 Gaucher disease (GDI) and its pathophysiology is yet to be fully understood. It is well known that body composition is a determinant of bone mass. Previous reports indicating disturbance in glucose and lipid metabolism in GDI patients suggested a posible alteration in body composition in this group of patients. OBJECTIVE: To analyze body composition, bone mass and turnover in young adults with GDI receiving enzyme replacement therapy (ERT). Population: 5 women and 4 men with GDI aged (X +/- SD) 26.9 +/- 6.9 years, receiving imiglucerase in a mean dose of 53 +/- 13 IU/kg/2weeks, during 4.9 +/- 3.9 years; and 145 sex and age matched healthy adults agreed to participate in the study. All control subjects had a body mass index (BMI) between 20 and 25 kg/m2. METHODS: Total body dual X-ray absorptiometry (DXA) was used to measure body composition and bone mass. Serum creatinine, calcium, osteocalcin (BGP), and type I collagen beta carboxy-terminal telopeptide (betaCTX) were determined in patients and controls. In addition, 25 hydroxyvitamin D (25OHD), and chitotriosidase activity were measured in patients. Results: GDI patients presented statistically significant (p<0.01) lower BMI, bone mineral density (BMD), bone mineral content (BMC), lean mass (LM), and fat mass (FM), compared to controls. LM correlated positively with BMC and BMD in both groups (p<0.01). GDI patients receiving the lower dose of ERT (<60 IU/kg/2weeks) presented lower BMD values than those receiving the higher dose (> or =60 IU/kg/2weeks) (0.968 +/- 0.032 vs 1.088 +/- 0.061 g/m2, respectively, p<0.001). Mean BGP levels were similar in patients and controls, whereas betaCTX levels were higher in GDI patients (p<0.02). All patients presented deficiency levels (<30ng/ml) of 25OHD. CONCLUSIONS: Although the patients had been receiving ERT, they presented a significant diminution in all body composition parameters, the decrease was more evident in those receiving the lower dose. The reduction in bone mass was associated with an imbalance in bone turnover (increased bone resorption). The correlation between LM and bone mass, suggests that metabolic disturbance occurring in GDI patients may be indirectly responsible for bone mass reduction in GDI patients, by altering body composition
Fil: Parisi, Muriel Solange. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Fil: Mastaglia, Silvina Rosana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Fil: Bagur, Alicia Cristina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Goldstein, Griselda. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Zeni, Susana Noemi. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Fil: Oliveri, María Beatriz. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Materia
Gaucher disease
bone turnover markers
bone mineral density
imiglucerase
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/164592
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/164592
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with ImigluceraseParisi, Muriel SolangeMastaglia, Silvina RosanaBagur, Alicia CristinaGoldstein, GriseldaZeni, Susana NoemiOliveri, María BeatrizGaucher diseasebone turnover markersbone mineral densityimiglucerasehttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Bone involvement is one of the most disabling complications in patients with type 1 Gaucher disease (GDI) and its pathophysiology is yet to be fully understood. It is well known that body composition is a determinant of bone mass. Previous reports indicating disturbance in glucose and lipid metabolism in GDI patients suggested a posible alteration in body composition in this group of patients. OBJECTIVE: To analyze body composition, bone mass and turnover in young adults with GDI receiving enzyme replacement therapy (ERT). Population: 5 women and 4 men with GDI aged (X +/- SD) 26.9 +/- 6.9 years, receiving imiglucerase in a mean dose of 53 +/- 13 IU/kg/2weeks, during 4.9 +/- 3.9 years; and 145 sex and age matched healthy adults agreed to participate in the study. All control subjects had a body mass index (BMI) between 20 and 25 kg/m2. METHODS: Total body dual X-ray absorptiometry (DXA) was used to measure body composition and bone mass. Serum creatinine, calcium, osteocalcin (BGP), and type I collagen beta carboxy-terminal telopeptide (betaCTX) were determined in patients and controls. In addition, 25 hydroxyvitamin D (25OHD), and chitotriosidase activity were measured in patients. Results: GDI patients presented statistically significant (p<0.01) lower BMI, bone mineral density (BMD), bone mineral content (BMC), lean mass (LM), and fat mass (FM), compared to controls. LM correlated positively with BMC and BMD in both groups (p<0.01). GDI patients receiving the lower dose of ERT (<60 IU/kg/2weeks) presented lower BMD values than those receiving the higher dose (> or =60 IU/kg/2weeks) (0.968 +/- 0.032 vs 1.088 +/- 0.061 g/m2, respectively, p<0.001). Mean BGP levels were similar in patients and controls, whereas betaCTX levels were higher in GDI patients (p<0.02). All patients presented deficiency levels (<30ng/ml) of 25OHD. CONCLUSIONS: Although the patients had been receiving ERT, they presented a significant diminution in all body composition parameters, the decrease was more evident in those receiving the lower dose. The reduction in bone mass was associated with an imbalance in bone turnover (increased bone resorption). The correlation between LM and bone mass, suggests that metabolic disturbance occurring in GDI patients may be indirectly responsible for bone mass reduction in GDI patients, by altering body compositionFil: Parisi, Muriel Solange. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaFil: Mastaglia, Silvina Rosana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaFil: Bagur, Alicia Cristina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Goldstein, Griselda. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Zeni, Susana Noemi. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaFil: Oliveri, María Beatriz. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaHolzapfel Verlag2007-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/164592Parisi, Muriel Solange; Mastaglia, Silvina Rosana; Bagur, Alicia Cristina; Goldstein, Griselda; Zeni, Susana Noemi; et al.; Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase; Holzapfel Verlag; European Journal Of Medical Research; 12-2007; 1-80949-2321CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://pubmed.ncbi.nlm.nih.gov/18226995/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:56:52Zoai:ri.conicet.gov.ar:11336/164592instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:56:53.265CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
title Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
spellingShingle Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
Parisi, Muriel Solange
Gaucher disease
bone turnover markers
bone mineral density
imiglucerase
title_short Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
title_full Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
title_fullStr Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
title_full_unstemmed Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
title_sort Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase
dc.creator.none.fl_str_mv Parisi, Muriel Solange
Mastaglia, Silvina Rosana
Bagur, Alicia Cristina
Goldstein, Griselda
Zeni, Susana Noemi
Oliveri, María Beatriz
author Parisi, Muriel Solange
author_facet Parisi, Muriel Solange
Mastaglia, Silvina Rosana
Bagur, Alicia Cristina
Goldstein, Griselda
Zeni, Susana Noemi
Oliveri, María Beatriz
author_role author
author2 Mastaglia, Silvina Rosana
Bagur, Alicia Cristina
Goldstein, Griselda
Zeni, Susana Noemi
Oliveri, María Beatriz
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Gaucher disease
bone turnover markers
bone mineral density
imiglucerase
topic Gaucher disease
bone turnover markers
bone mineral density
imiglucerase
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Bone involvement is one of the most disabling complications in patients with type 1 Gaucher disease (GDI) and its pathophysiology is yet to be fully understood. It is well known that body composition is a determinant of bone mass. Previous reports indicating disturbance in glucose and lipid metabolism in GDI patients suggested a posible alteration in body composition in this group of patients. OBJECTIVE: To analyze body composition, bone mass and turnover in young adults with GDI receiving enzyme replacement therapy (ERT). Population: 5 women and 4 men with GDI aged (X +/- SD) 26.9 +/- 6.9 years, receiving imiglucerase in a mean dose of 53 +/- 13 IU/kg/2weeks, during 4.9 +/- 3.9 years; and 145 sex and age matched healthy adults agreed to participate in the study. All control subjects had a body mass index (BMI) between 20 and 25 kg/m2. METHODS: Total body dual X-ray absorptiometry (DXA) was used to measure body composition and bone mass. Serum creatinine, calcium, osteocalcin (BGP), and type I collagen beta carboxy-terminal telopeptide (betaCTX) were determined in patients and controls. In addition, 25 hydroxyvitamin D (25OHD), and chitotriosidase activity were measured in patients. Results: GDI patients presented statistically significant (p<0.01) lower BMI, bone mineral density (BMD), bone mineral content (BMC), lean mass (LM), and fat mass (FM), compared to controls. LM correlated positively with BMC and BMD in both groups (p<0.01). GDI patients receiving the lower dose of ERT (<60 IU/kg/2weeks) presented lower BMD values than those receiving the higher dose (> or =60 IU/kg/2weeks) (0.968 +/- 0.032 vs 1.088 +/- 0.061 g/m2, respectively, p<0.001). Mean BGP levels were similar in patients and controls, whereas betaCTX levels were higher in GDI patients (p<0.02). All patients presented deficiency levels (<30ng/ml) of 25OHD. CONCLUSIONS: Although the patients had been receiving ERT, they presented a significant diminution in all body composition parameters, the decrease was more evident in those receiving the lower dose. The reduction in bone mass was associated with an imbalance in bone turnover (increased bone resorption). The correlation between LM and bone mass, suggests that metabolic disturbance occurring in GDI patients may be indirectly responsible for bone mass reduction in GDI patients, by altering body composition
Fil: Parisi, Muriel Solange. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Fil: Mastaglia, Silvina Rosana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Fil: Bagur, Alicia Cristina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Goldstein, Griselda. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Zeni, Susana Noemi. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
Fil: Oliveri, María Beatriz. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina
description Bone involvement is one of the most disabling complications in patients with type 1 Gaucher disease (GDI) and its pathophysiology is yet to be fully understood. It is well known that body composition is a determinant of bone mass. Previous reports indicating disturbance in glucose and lipid metabolism in GDI patients suggested a posible alteration in body composition in this group of patients. OBJECTIVE: To analyze body composition, bone mass and turnover in young adults with GDI receiving enzyme replacement therapy (ERT). Population: 5 women and 4 men with GDI aged (X +/- SD) 26.9 +/- 6.9 years, receiving imiglucerase in a mean dose of 53 +/- 13 IU/kg/2weeks, during 4.9 +/- 3.9 years; and 145 sex and age matched healthy adults agreed to participate in the study. All control subjects had a body mass index (BMI) between 20 and 25 kg/m2. METHODS: Total body dual X-ray absorptiometry (DXA) was used to measure body composition and bone mass. Serum creatinine, calcium, osteocalcin (BGP), and type I collagen beta carboxy-terminal telopeptide (betaCTX) were determined in patients and controls. In addition, 25 hydroxyvitamin D (25OHD), and chitotriosidase activity were measured in patients. Results: GDI patients presented statistically significant (p<0.01) lower BMI, bone mineral density (BMD), bone mineral content (BMC), lean mass (LM), and fat mass (FM), compared to controls. LM correlated positively with BMC and BMD in both groups (p<0.01). GDI patients receiving the lower dose of ERT (<60 IU/kg/2weeks) presented lower BMD values than those receiving the higher dose (> or =60 IU/kg/2weeks) (0.968 +/- 0.032 vs 1.088 +/- 0.061 g/m2, respectively, p<0.001). Mean BGP levels were similar in patients and controls, whereas betaCTX levels were higher in GDI patients (p<0.02). All patients presented deficiency levels (<30ng/ml) of 25OHD. CONCLUSIONS: Although the patients had been receiving ERT, they presented a significant diminution in all body composition parameters, the decrease was more evident in those receiving the lower dose. The reduction in bone mass was associated with an imbalance in bone turnover (increased bone resorption). The correlation between LM and bone mass, suggests that metabolic disturbance occurring in GDI patients may be indirectly responsible for bone mass reduction in GDI patients, by altering body composition
publishDate 2007
dc.date.none.fl_str_mv 2007-12
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/164592
Parisi, Muriel Solange; Mastaglia, Silvina Rosana; Bagur, Alicia Cristina; Goldstein, Griselda; Zeni, Susana Noemi; et al.; Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase; Holzapfel Verlag; European Journal Of Medical Research; 12-2007; 1-8
0949-2321
CONICET Digital
CONICET
url http://hdl.handle.net/11336/164592
identifier_str_mv Parisi, Muriel Solange; Mastaglia, Silvina Rosana; Bagur, Alicia Cristina; Goldstein, Griselda; Zeni, Susana Noemi; et al.; Body Composition and Bone Metabolism in Young Gaucher Disease Type I Patients Treated with Imiglucerase; Holzapfel Verlag; European Journal Of Medical Research; 12-2007; 1-8
0949-2321
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://pubmed.ncbi.nlm.nih.gov/18226995/
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Holzapfel Verlag
publisher.none.fl_str_mv Holzapfel Verlag
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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