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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib
BACKGROUND: To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib). CASE PRESENTATION: This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics,...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7972195/ https://www.ncbi.nlm.nih.gov/pubmed/33731098 http://dx.doi.org/10.1186/s12920-021-00936-9 |
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author | Du, Caiqi Li, Zhuoguang Wei, Hong Zhang, Min Hu, Minghui Zhang, Cai Luo, Xiaoping Liang, Yan |
author_facet | Du, Caiqi Li, Zhuoguang Wei, Hong Zhang, Min Hu, Minghui Zhang, Cai Luo, Xiaoping Liang, Yan |
author_sort | Du, Caiqi |
collection | PubMed |
description | BACKGROUND: To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib). CASE PRESENTATION: This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Five variants of SLC37A4 gene were detected, of which c. 572C > T was the common variant and c. 680G > A was a novel variant. The 3 cases of GSD Ib were mainly affected by liver enlargement, growth retardation, etc., and all had a history of repeated infections. At the onset, patients mainly manifested as mildly elevated alanine-aminotransferase (ALT), accompanied by decreased absolute neutrophil count (ANC), hypertriglyceridemia, and metabolic disorders (hypoglycemia, hyperlactic acidemia, metabolic acidosis, etc.). After long-term treatment by oral uncooked cornstarch, the abnormal liver enzymes gradually returned to normal, and metabolic abnormalities were basically controlled most of the time. With increasing age, ANC of 2 patients decreased progressively, whereas the times of infections was reduced. CONCLUSIONS: We reported 3 cases with GSD Ib and a novel SLC37A4 variant. The possibility of GSD type Ib should be kept on alert when a patient suffers recurrent infections, accompanied by hepatomegaly, elevated liver enzymes, hypoglycemia, dyslipidemia, and metabolic disorders. |
format | Online Article Text |
id | pubmed-7972195 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-79721952021-03-19 Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib Du, Caiqi Li, Zhuoguang Wei, Hong Zhang, Min Hu, Minghui Zhang, Cai Luo, Xiaoping Liang, Yan BMC Med Genomics Case Report BACKGROUND: To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib). CASE PRESENTATION: This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Five variants of SLC37A4 gene were detected, of which c. 572C > T was the common variant and c. 680G > A was a novel variant. The 3 cases of GSD Ib were mainly affected by liver enlargement, growth retardation, etc., and all had a history of repeated infections. At the onset, patients mainly manifested as mildly elevated alanine-aminotransferase (ALT), accompanied by decreased absolute neutrophil count (ANC), hypertriglyceridemia, and metabolic disorders (hypoglycemia, hyperlactic acidemia, metabolic acidosis, etc.). After long-term treatment by oral uncooked cornstarch, the abnormal liver enzymes gradually returned to normal, and metabolic abnormalities were basically controlled most of the time. With increasing age, ANC of 2 patients decreased progressively, whereas the times of infections was reduced. CONCLUSIONS: We reported 3 cases with GSD Ib and a novel SLC37A4 variant. The possibility of GSD type Ib should be kept on alert when a patient suffers recurrent infections, accompanied by hepatomegaly, elevated liver enzymes, hypoglycemia, dyslipidemia, and metabolic disorders. BioMed Central 2021-03-17 /pmc/articles/PMC7972195/ /pubmed/33731098 http://dx.doi.org/10.1186/s12920-021-00936-9 Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Du, Caiqi Li, Zhuoguang Wei, Hong Zhang, Min Hu, Minghui Zhang, Cai Luo, Xiaoping Liang, Yan Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib |
title | Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib |
title_full | Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib |
title_fullStr | Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib |
title_full_unstemmed | Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib |
title_short | Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib |
title_sort | clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type ib |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7972195/ https://www.ncbi.nlm.nih.gov/pubmed/33731098 http://dx.doi.org/10.1186/s12920-021-00936-9 |
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