Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease

Autores
Martínez, Lidia Dora; Giner-Ayala, Alicia; Oropeza, Gabriela; Grinberg, Daniel; Dodelson de Kremer, Raquel
Año de publicación
2015
Idioma
inglés
Tipo de recurso
documento de conferencia
Estado
versión publicada
Descripción
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Giner-Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Oropeza, Gabriela. Hospital Infantil Municipal. Gastroenterología Pediátrica; Argentina.
Fil: Grinberg, Daniel. Universidad de Barcelona. Facultad de Biología. Departamento de Genética; Argentina.
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra B de Biología Celular; Argentina.
Introduction: Niemann-Pick type B (NP-B) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase coded by SMPD1 gene. NP-B is a multisystem disease with progressive hepatosplenomegaly and gradual deterioration of pulmonar function, most type B patients have litle or no neurologic involvement and most patients survive into adulthood. Aim: to report the clinical, biochemical and molecular studies for a characterization of a patients, in the context of a systematic research protocol of this phatology in Argentina. Methodology: a) Description of a new patients b) Research Protocol: 1- compatible patient selection, 2- histological and biochemical studies 3- enzymatic determinations (acid sphingomyelinase and chitotriosidase), 4- molecular analysis. Results: A 6 years-old female of nonconsanguineous parents, presented a previous history of hepatosplenomegaly. She didn´t had any neurological symptoms. The liver electron microscopy indicated the presence of electron-lucent vacuoles and electron-dense membranes in hepatocytes. Bone marrow biopsy show foam cells. The general laboratory analyses showed hypertriglyceridemia and elevated transaminases. The plasma chitotriosidase was slightly increased. Sphingomyelinase enzyme level was 0.46 nmol/ 17 hour/ mg protein (Range: 8- 47 nmol/ 17 hour/ mg protein). We found homozygote p. R608 del mutation in SMPD1 gene and diagnosis of NP-B was established. Conclusion: This study indicates that clinical heterogeneity and biochemical requered of a research protocol aimed at identifying patients with NP disease. Genotype-phenotype correlations were established for this mutations. Moreover, enzyme replacement therapy with recombinant sphingomyelinase is currently studied as potential treatment for NP-B.
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Giner-Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Oropeza, Gabriela. Hospital Infantil Municipal. Gastroenterología Pediátrica; Argentina.
Fil: Grinberg, Daniel. Universidad de Barcelona. Facultad de Biología. Departamento de Genética; Argentina.
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra B de Biología Celular; Argentina.
Otras Ciencias de la Salud
Materia
Lisosomas
Niemann pick c
Neurodegeneración
Esfingomielina
Nivel de accesibilidad
acceso abierto
Condiciones de uso
Repositorio
Repositorio Digital Universitario (UNC)
Institución
Universidad Nacional de Córdoba
OAI Identificador
oai:rdu.unc.edu.ar:11086/559292
Acceder
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oai_identifier_str oai:rdu.unc.edu.ar:11086/559292
network_acronym_str RDUUNC
repository_id_str 2572
network_name_str Repositorio Digital Universitario (UNC)
spelling Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B diseaseMartínez, Lidia DoraGiner-Ayala, AliciaOropeza, GabrielaGrinberg, DanielDodelson de Kremer, RaquelLisosomasNiemann pick cNeurodegeneraciónEsfingomielinaFil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Giner-Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Oropeza, Gabriela. Hospital Infantil Municipal. Gastroenterología Pediátrica; Argentina.Fil: Grinberg, Daniel. Universidad de Barcelona. Facultad de Biología. Departamento de Genética; Argentina.Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra B de Biología Celular; Argentina.Introduction: Niemann-Pick type B (NP-B) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase coded by SMPD1 gene. NP-B is a multisystem disease with progressive hepatosplenomegaly and gradual deterioration of pulmonar function, most type B patients have litle or no neurologic involvement and most patients survive into adulthood. Aim: to report the clinical, biochemical and molecular studies for a characterization of a patients, in the context of a systematic research protocol of this phatology in Argentina. Methodology: a) Description of a new patients b) Research Protocol: 1- compatible patient selection, 2- histological and biochemical studies 3- enzymatic determinations (acid sphingomyelinase and chitotriosidase), 4- molecular analysis. Results: A 6 years-old female of nonconsanguineous parents, presented a previous history of hepatosplenomegaly. She didn´t had any neurological symptoms. The liver electron microscopy indicated the presence of electron-lucent vacuoles and electron-dense membranes in hepatocytes. Bone marrow biopsy show foam cells. The general laboratory analyses showed hypertriglyceridemia and elevated transaminases. The plasma chitotriosidase was slightly increased. Sphingomyelinase enzyme level was 0.46 nmol/ 17 hour/ mg protein (Range: 8- 47 nmol/ 17 hour/ mg protein). We found homozygote p. R608 del mutation in SMPD1 gene and diagnosis of NP-B was established. Conclusion: This study indicates that clinical heterogeneity and biochemical requered of a research protocol aimed at identifying patients with NP disease. Genotype-phenotype correlations were established for this mutations. Moreover, enzyme replacement therapy with recombinant sphingomyelinase is currently studied as potential treatment for NP-B.Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Giner-Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Oropeza, Gabriela. Hospital Infantil Municipal. Gastroenterología Pediátrica; Argentina.Fil: Grinberg, Daniel. Universidad de Barcelona. Facultad de Biología. Departamento de Genética; Argentina.Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra B de Biología Celular; Argentina.Otras Ciencias de la Salud2015info:eu-repo/semantics/conferenceObjectinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_5794info:ar-repo/semantics/documentoDeConferenciaapplication/pdf2326-4098http://hdl.handle.net/11086/559292info:eu-repo/semantics/openAccessengreponame:Repositorio Digital Universitario (UNC)instname:Universidad Nacional de Córdobainstacron:UNC2025-11-13T08:46:10Zoai:rdu.unc.edu.ar:11086/559292Institucionalhttps://rdu.unc.edu.ar/Universidad públicaNo correspondehttp://rdu.unc.edu.ar/oai/snrdoca.unc@gmail.comArgentinaNo correspondeNo correspondeNo correspondeopendoar:25722025-11-13 08:46:11.133Repositorio Digital Universitario (UNC) - Universidad Nacional de Córdobafalse
dc.title.none.fl_str_mv Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
title Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
spellingShingle Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
Martínez, Lidia Dora
Lisosomas
Niemann pick c
Neurodegeneración
Esfingomielina
title_short Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
title_full Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
title_fullStr Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
title_full_unstemmed Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
title_sort Characterization clinical, biochemical and molecular studies of a patient affected for niemann pick type B disease
dc.creator.none.fl_str_mv Martínez, Lidia Dora
Giner-Ayala, Alicia
Oropeza, Gabriela
Grinberg, Daniel
Dodelson de Kremer, Raquel
author Martínez, Lidia Dora
author_facet Martínez, Lidia Dora
Giner-Ayala, Alicia
Oropeza, Gabriela
Grinberg, Daniel
Dodelson de Kremer, Raquel
author_role author
author2 Giner-Ayala, Alicia
Oropeza, Gabriela
Grinberg, Daniel
Dodelson de Kremer, Raquel
author2_role author
author
author
author
dc.subject.none.fl_str_mv Lisosomas
Niemann pick c
Neurodegeneración
Esfingomielina
topic Lisosomas
Niemann pick c
Neurodegeneración
Esfingomielina
dc.description.none.fl_txt_mv Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Giner-Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Oropeza, Gabriela. Hospital Infantil Municipal. Gastroenterología Pediátrica; Argentina.
Fil: Grinberg, Daniel. Universidad de Barcelona. Facultad de Biología. Departamento de Genética; Argentina.
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra B de Biología Celular; Argentina.
Introduction: Niemann-Pick type B (NP-B) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase coded by SMPD1 gene. NP-B is a multisystem disease with progressive hepatosplenomegaly and gradual deterioration of pulmonar function, most type B patients have litle or no neurologic involvement and most patients survive into adulthood. Aim: to report the clinical, biochemical and molecular studies for a characterization of a patients, in the context of a systematic research protocol of this phatology in Argentina. Methodology: a) Description of a new patients b) Research Protocol: 1- compatible patient selection, 2- histological and biochemical studies 3- enzymatic determinations (acid sphingomyelinase and chitotriosidase), 4- molecular analysis. Results: A 6 years-old female of nonconsanguineous parents, presented a previous history of hepatosplenomegaly. She didn´t had any neurological symptoms. The liver electron microscopy indicated the presence of electron-lucent vacuoles and electron-dense membranes in hepatocytes. Bone marrow biopsy show foam cells. The general laboratory analyses showed hypertriglyceridemia and elevated transaminases. The plasma chitotriosidase was slightly increased. Sphingomyelinase enzyme level was 0.46 nmol/ 17 hour/ mg protein (Range: 8- 47 nmol/ 17 hour/ mg protein). We found homozygote p. R608 del mutation in SMPD1 gene and diagnosis of NP-B was established. Conclusion: This study indicates that clinical heterogeneity and biochemical requered of a research protocol aimed at identifying patients with NP disease. Genotype-phenotype correlations were established for this mutations. Moreover, enzyme replacement therapy with recombinant sphingomyelinase is currently studied as potential treatment for NP-B.
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Giner-Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Oropeza, Gabriela. Hospital Infantil Municipal. Gastroenterología Pediátrica; Argentina.
Fil: Grinberg, Daniel. Universidad de Barcelona. Facultad de Biología. Departamento de Genética; Argentina.
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra B de Biología Celular; Argentina.
Otras Ciencias de la Salud
description Fil: Martínez, Lidia Dora. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
publishDate 2015
dc.date.none.fl_str_mv 2015
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dc.identifier.none.fl_str_mv 2326-4098
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dc.language.none.fl_str_mv eng
language eng
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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instname_str Universidad Nacional de Córdoba
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