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Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series
BACKGROUND: Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency. Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. However, GSD II is also independently associat...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704633/ https://www.ncbi.nlm.nih.gov/pubmed/31439017 http://dx.doi.org/10.1186/s13052-019-0692-0 |
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author | Xu, Lingling Ba, Hongjun Pei, Yuxin Huang, Xueqiong Liang, Yujian Zhang, Lidan Huang, Huimin Zhang, Cheng Tang, Wen |
author_facet | Xu, Lingling Ba, Hongjun Pei, Yuxin Huang, Xueqiong Liang, Yujian Zhang, Lidan Huang, Huimin Zhang, Cheng Tang, Wen |
author_sort | Xu, Lingling |
collection | PubMed |
description | BACKGROUND: Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency. Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. However, GSD II is also independently associated with delayed weaning from mechanical ventilation. This study aimed to describe a comprehensive approach including sequential invasive-noninvasive mechanical ventilation weaning and enzyme replacement therapy (ERT) in patients with weaning difficulties. CASE PRESENTATION: We studied six difficult-to-wean GSD II (three juvenile-onset, three infantile-onset) patients at the First Affiliated Hospital, Sun Yat-sen University from October 2015 to December 2017. Difficulty in weaning was defined as follows: the need for more than three spontaneous breathing trials or more than 1 week to achieve successful weaning. All patients received comprehensive treatment including sequential invasive-noninvasive mechanical ventilation weaning, ERT and general treatment. Recombinant human acid alpha-glucosidase enzyme therapy (20 mg/kg every 14 days) was used after diagnosis, and Patients 1–6 received ERT for 15.5, 4.5, 2, 2.5, 17, and 2 months, respectively. The therapeutic effect of the comprehensive treatment was observed. The patients’ respiratory function and limb muscle strength improved after each ERT session. Patients who successfully completed a spontaneous breathing trial could proceed to extubation, and then start non-invasive ventilation. The patients’ age range at initial mechanical ventilation was 3–47 (median 26.5) months, duration of invasive ventilation was 1–36 (median 2.75) months, and duration of noninvasive ventilation was 0–0.6 (median 0.05) month. The patients’ nutritional status improved after enhanced nutritional support. Patients 2, 3, and 5 were successfully weaned off the ventilator. Patient 1 underwent tracheal intubation after six weaning failures, and Patients 4 and 6 died after therapy was abandoned by their parents. DISCUSSION AND CONCLUSIONS: Male sex, GSD II type, and the presence of malnutrition and neurological impairment may predict poor respiratory outcomes. The above-described comprehensive sequential invasive-noninvasive mechanical ventilation weaning strategy may increase the success rate of weaning from mechanical ventilation. |
format | Online Article Text |
id | pubmed-6704633 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-67046332019-08-22 Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series Xu, Lingling Ba, Hongjun Pei, Yuxin Huang, Xueqiong Liang, Yujian Zhang, Lidan Huang, Huimin Zhang, Cheng Tang, Wen Ital J Pediatr Case Report BACKGROUND: Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency. Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. However, GSD II is also independently associated with delayed weaning from mechanical ventilation. This study aimed to describe a comprehensive approach including sequential invasive-noninvasive mechanical ventilation weaning and enzyme replacement therapy (ERT) in patients with weaning difficulties. CASE PRESENTATION: We studied six difficult-to-wean GSD II (three juvenile-onset, three infantile-onset) patients at the First Affiliated Hospital, Sun Yat-sen University from October 2015 to December 2017. Difficulty in weaning was defined as follows: the need for more than three spontaneous breathing trials or more than 1 week to achieve successful weaning. All patients received comprehensive treatment including sequential invasive-noninvasive mechanical ventilation weaning, ERT and general treatment. Recombinant human acid alpha-glucosidase enzyme therapy (20 mg/kg every 14 days) was used after diagnosis, and Patients 1–6 received ERT for 15.5, 4.5, 2, 2.5, 17, and 2 months, respectively. The therapeutic effect of the comprehensive treatment was observed. The patients’ respiratory function and limb muscle strength improved after each ERT session. Patients who successfully completed a spontaneous breathing trial could proceed to extubation, and then start non-invasive ventilation. The patients’ age range at initial mechanical ventilation was 3–47 (median 26.5) months, duration of invasive ventilation was 1–36 (median 2.75) months, and duration of noninvasive ventilation was 0–0.6 (median 0.05) month. The patients’ nutritional status improved after enhanced nutritional support. Patients 2, 3, and 5 were successfully weaned off the ventilator. Patient 1 underwent tracheal intubation after six weaning failures, and Patients 4 and 6 died after therapy was abandoned by their parents. DISCUSSION AND CONCLUSIONS: Male sex, GSD II type, and the presence of malnutrition and neurological impairment may predict poor respiratory outcomes. The above-described comprehensive sequential invasive-noninvasive mechanical ventilation weaning strategy may increase the success rate of weaning from mechanical ventilation. BioMed Central 2019-08-22 /pmc/articles/PMC6704633/ /pubmed/31439017 http://dx.doi.org/10.1186/s13052-019-0692-0 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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. |
spellingShingle | Case Report Xu, Lingling Ba, Hongjun Pei, Yuxin Huang, Xueqiong Liang, Yujian Zhang, Lidan Huang, Huimin Zhang, Cheng Tang, Wen Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
title | Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
title_full | Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
title_fullStr | Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
title_full_unstemmed | Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
title_short | Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series |
title_sort | comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type ii patients: a case series |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704633/ https://www.ncbi.nlm.nih.gov/pubmed/31439017 http://dx.doi.org/10.1186/s13052-019-0692-0 |
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