LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE
Autor(a) principal: | |
---|---|
Data de Publicação: | 2021 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de gastroenterologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032021000100087 |
Resumo: | ABSTRACT BACKGROUND Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease. OBJECTIVE To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. METHODS Retrospective case series of seven patients with GSD 1b diagnosed and followed at a tertiary university hospital in Brazil, from July/2000 until July/2016. RESULTS Mean age at referral was fourteen months. Diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies in five cases. All patients presented suffered from neutropenia, managed with G-CSF - specifically Filgrastim. Hospitalizations for infections were frequent. Two patients developed inflammatory bowel disease. Six patients remained alive, one died at age 14 years and 9 months. The mean age at the end of the follow-up was 11.5 years. Compliance to treatment was suboptimal: poor compliance to medications, starch and dietetic management of GSD were documented, and outpatient appointments were frequently missed. CONCLUSION Managing GSD 1b is challenging not only for the chronic and multisystemic nature of this disease, but also for the additional demands related dietary restrictions, use of multiple medications and the need for frequent follow-up visits; furthermore in Brazil, the difficulties are increased in a scenario where we frequently care for patients with unfavorable socioeconomic status and with irregular supply of medications in the public health system. |
id |
IBEPEGE-1_0dcc6a9c95a0faf6c2128f69bf5de3df |
---|---|
oai_identifier_str |
oai:scielo:S0004-28032021000100087 |
network_acronym_str |
IBEPEGE-1 |
network_name_str |
Arquivos de gastroenterologia (Online) |
repository_id_str |
|
spelling |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCEGlycogen storage disease type INeutropeniaInflammatory bowel diseasesImmune system diseasesGranulcyte colony-stimulating fatorFilgrastimPediatricsABSTRACT BACKGROUND Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease. OBJECTIVE To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. METHODS Retrospective case series of seven patients with GSD 1b diagnosed and followed at a tertiary university hospital in Brazil, from July/2000 until July/2016. RESULTS Mean age at referral was fourteen months. Diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies in five cases. All patients presented suffered from neutropenia, managed with G-CSF - specifically Filgrastim. Hospitalizations for infections were frequent. Two patients developed inflammatory bowel disease. Six patients remained alive, one died at age 14 years and 9 months. The mean age at the end of the follow-up was 11.5 years. Compliance to treatment was suboptimal: poor compliance to medications, starch and dietetic management of GSD were documented, and outpatient appointments were frequently missed. CONCLUSION Managing GSD 1b is challenging not only for the chronic and multisystemic nature of this disease, but also for the additional demands related dietary restrictions, use of multiple medications and the need for frequent follow-up visits; furthermore in Brazil, the difficulties are increased in a scenario where we frequently care for patients with unfavorable socioeconomic status and with irregular supply of medications in the public health system.Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. 2021-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032021000100087Arquivos de Gastroenterologia v.58 n.1 2021reponame:Arquivos de gastroenterologia (Online)instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiainstacron:IBEPEGE10.1590/s0004-2803.202100000-15info:eu-repo/semantics/openAccessTAKAO,Marina Mayumi VendrameSANDY,Natascha SilvaRICCETTO,Adriana Gut LopesTOMMASO,Adriana Maria Alves DEeng2021-04-20T00:00:00Zoai:scielo:S0004-28032021000100087Revistahttp://www.scielo.br/aghttps://old.scielo.br/oai/scielo-oai.php||secretariaarqgastr@hospitaligesp.com.br1678-42190004-2803opendoar:2021-04-20T00:00Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiafalse |
dc.title.none.fl_str_mv |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
title |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
spellingShingle |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE TAKAO,Marina Mayumi Vendrame Glycogen storage disease type I Neutropenia Inflammatory bowel diseases Immune system diseases Granulcyte colony-stimulating fator Filgrastim Pediatrics |
title_short |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
title_full |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
title_fullStr |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
title_full_unstemmed |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
title_sort |
LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE |
author |
TAKAO,Marina Mayumi Vendrame |
author_facet |
TAKAO,Marina Mayumi Vendrame SANDY,Natascha Silva RICCETTO,Adriana Gut Lopes TOMMASO,Adriana Maria Alves DE |
author_role |
author |
author2 |
SANDY,Natascha Silva RICCETTO,Adriana Gut Lopes TOMMASO,Adriana Maria Alves DE |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
TAKAO,Marina Mayumi Vendrame SANDY,Natascha Silva RICCETTO,Adriana Gut Lopes TOMMASO,Adriana Maria Alves DE |
dc.subject.por.fl_str_mv |
Glycogen storage disease type I Neutropenia Inflammatory bowel diseases Immune system diseases Granulcyte colony-stimulating fator Filgrastim Pediatrics |
topic |
Glycogen storage disease type I Neutropenia Inflammatory bowel diseases Immune system diseases Granulcyte colony-stimulating fator Filgrastim Pediatrics |
description |
ABSTRACT BACKGROUND Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease. OBJECTIVE To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. METHODS Retrospective case series of seven patients with GSD 1b diagnosed and followed at a tertiary university hospital in Brazil, from July/2000 until July/2016. RESULTS Mean age at referral was fourteen months. Diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies in five cases. All patients presented suffered from neutropenia, managed with G-CSF - specifically Filgrastim. Hospitalizations for infections were frequent. Two patients developed inflammatory bowel disease. Six patients remained alive, one died at age 14 years and 9 months. The mean age at the end of the follow-up was 11.5 years. Compliance to treatment was suboptimal: poor compliance to medications, starch and dietetic management of GSD were documented, and outpatient appointments were frequently missed. CONCLUSION Managing GSD 1b is challenging not only for the chronic and multisystemic nature of this disease, but also for the additional demands related dietary restrictions, use of multiple medications and the need for frequent follow-up visits; furthermore in Brazil, the difficulties are increased in a scenario where we frequently care for patients with unfavorable socioeconomic status and with irregular supply of medications in the public health system. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-03-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032021000100087 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032021000100087 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/s0004-2803.202100000-15 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. |
publisher.none.fl_str_mv |
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. |
dc.source.none.fl_str_mv |
Arquivos de Gastroenterologia v.58 n.1 2021 reponame:Arquivos de gastroenterologia (Online) instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia instacron:IBEPEGE |
instname_str |
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia |
instacron_str |
IBEPEGE |
institution |
IBEPEGE |
reponame_str |
Arquivos de gastroenterologia (Online) |
collection |
Arquivos de gastroenterologia (Online) |
repository.name.fl_str_mv |
Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia |
repository.mail.fl_str_mv |
||secretariaarqgastr@hospitaligesp.com.br |
_version_ |
1754193350762692608 |