Screening for Pompe Disease in a Portuguese High Risk Population
Autor(a) principal: | |
---|---|
Data de Publicação: | 2017 |
Outros Autores: | , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/2870 |
Resumo: | Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia. |
id |
RCAP_4957cecdd12f4d5767048fce2df86c18 |
---|---|
oai_identifier_str |
oai:repositorio.chlc.min-saude.pt:10400.17/2870 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Screening for Pompe Disease in a Portuguese High Risk PopulationHSJ NEUHDE NEUHSAC NEUAmbulatory CareDried Blood Spot TestingGlycogen Storage Disease Type II/diagnosisGlycogen Storage Disease Type II/physiopathologyMuscle Weakness/diagnosisMuscle Weakness/physiopathologyPortugalProspective StudiesRiskPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.ElsevierRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEAlmeida, VConceição, IFineza, ICoelho, TSilveira, FSantos, MValverde, AGeraldo, AMaré, RAguiar, TCMendonça, CMartins, JMedeiros, LBarroso, CVieira, JPMoreno, TNegrão, LSilva Dias, MLacerda, LEvangelista, T2018-01-30T16:47:39Z2017-082017-08-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2870engNeuromuscul Disord. 2017 Aug;27(8):777-78110.1016/j.nmd.2017.03.010info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-04-16T05:45:28Zoai:repositorio.chlc.min-saude.pt:10400.17/2870Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:12.155588Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Screening for Pompe Disease in a Portuguese High Risk Population |
title |
Screening for Pompe Disease in a Portuguese High Risk Population |
spellingShingle |
Screening for Pompe Disease in a Portuguese High Risk Population Almeida, V HSJ NEU HDE NEU HSAC NEU Ambulatory Care Dried Blood Spot Testing Glycogen Storage Disease Type II/diagnosis Glycogen Storage Disease Type II/physiopathology Muscle Weakness/diagnosis Muscle Weakness/physiopathology Portugal Prospective Studies Risk |
title_short |
Screening for Pompe Disease in a Portuguese High Risk Population |
title_full |
Screening for Pompe Disease in a Portuguese High Risk Population |
title_fullStr |
Screening for Pompe Disease in a Portuguese High Risk Population |
title_full_unstemmed |
Screening for Pompe Disease in a Portuguese High Risk Population |
title_sort |
Screening for Pompe Disease in a Portuguese High Risk Population |
author |
Almeida, V |
author_facet |
Almeida, V Conceição, I Fineza, I Coelho, T Silveira, F Santos, M Valverde, A Geraldo, A Maré, R Aguiar, TC Mendonça, C Martins, J Medeiros, L Barroso, C Vieira, JP Moreno, T Negrão, L Silva Dias, M Lacerda, L Evangelista, T |
author_role |
author |
author2 |
Conceição, I Fineza, I Coelho, T Silveira, F Santos, M Valverde, A Geraldo, A Maré, R Aguiar, TC Mendonça, C Martins, J Medeiros, L Barroso, C Vieira, JP Moreno, T Negrão, L Silva Dias, M Lacerda, L Evangelista, T |
author2_role |
author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Almeida, V Conceição, I Fineza, I Coelho, T Silveira, F Santos, M Valverde, A Geraldo, A Maré, R Aguiar, TC Mendonça, C Martins, J Medeiros, L Barroso, C Vieira, JP Moreno, T Negrão, L Silva Dias, M Lacerda, L Evangelista, T |
dc.subject.por.fl_str_mv |
HSJ NEU HDE NEU HSAC NEU Ambulatory Care Dried Blood Spot Testing Glycogen Storage Disease Type II/diagnosis Glycogen Storage Disease Type II/physiopathology Muscle Weakness/diagnosis Muscle Weakness/physiopathology Portugal Prospective Studies Risk |
topic |
HSJ NEU HDE NEU HSAC NEU Ambulatory Care Dried Blood Spot Testing Glycogen Storage Disease Type II/diagnosis Glycogen Storage Disease Type II/physiopathology Muscle Weakness/diagnosis Muscle Weakness/physiopathology Portugal Prospective Studies Risk |
description |
Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-08 2017-08-01T00:00:00Z 2018-01-30T16:47:39Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/2870 |
url |
http://hdl.handle.net/10400.17/2870 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Neuromuscul Disord. 2017 Aug;27(8):777-781 10.1016/j.nmd.2017.03.010 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799131297942077440 |