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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2021-04-12 , DOI: 10.1002/jimd.12386 Alessandro Rossi 1, 2 , Irene J Hoogeveen 1 , Charlotte M A Lubout 1 , Foekje de Boer 1 , Marieke J Fokkert-Wilts 1 , Iris L Rodenburg 1 , Esther van Dam 1 , Sarah C Grünert 3 , Diego Martinelli 4 , Maurizio Scarpa 5 , , Hanka Dekker 6 , Sebastiaan T Te Boekhorst 7 , Francjan J van Spronsen 1 , Terry G J Derks 1
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2021-04-12 , DOI: 10.1002/jimd.12386 Alessandro Rossi 1, 2 , Irene J Hoogeveen 1 , Charlotte M A Lubout 1 , Foekje de Boer 1 , Marieke J Fokkert-Wilts 1 , Iris L Rodenburg 1 , Esther van Dam 1 , Sarah C Grünert 3 , Diego Martinelli 4 , Maurizio Scarpa 5 , , Hanka Dekker 6 , Sebastiaan T Te Boekhorst 7 , Francjan J van Spronsen 1 , Terry G J Derks 1
Affiliation
Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of the use of emergency letters based on a generic emergency protocol in patients with hepatic glycogen storage diseases (GSD) or fatty acid oxidation disorders (FAOD). Data on hospital admissions, initial laboratory results, and serious adverse events were collected. Subsequently, the website www.emergencyprotocol.net was generated in the context of the CONNECT MetabERN eHealth project following multiple meetings, protocol revisions, and translations. Representing 470 emergency protocol years, 127 hospital admissions were documented in 54/128 (42%) patients who made use of emergency letters generated based on the generic emergency protocol. Hypoglycemia (here defined as glucose concentration < 3.9 mmol/L) was reported in only 15% of hospital admissions and was uncommon in patients with ketotic GSD and patients with FAOD aged >5 years. Convulsions, coma, or death was not documented. By providing basic information, emergency letters for individual patients with hepatic GSD or the main FAOD can be generated at www.emergencyprotocol.net, in nine different languages. Generic emergency protocols are safe and easy for home management by the caregivers and the first hour in-hospital management to prevent metabolic emergencies in patients with hepatic GSD and medium-chain Acyl CoA dehydrogenase deficiency. The website www.emergencyprotocol.net is designed to support families and healthcare providers to generate personalized emergency letters for patients with hepatic GSD and the main FAOD.
中文翻译:
先天性代谢错误导致禁食不耐受患者的通用紧急方案:回顾性单中心研究和 www.emergencyprotocol.net 的生成
先天性代谢错误导致禁食不耐受的患者可能会出现急性代谢失代偿。缺乏使用紧急信件的结果的长期数据。这是一项回顾性、观察性、单中心研究,基于通用紧急方案在肝糖原贮积病 (GSD) 或脂肪酸氧化障碍 (FAOD) 患者中使用紧急信件。收集了有关入院、初步实验室结果和严重不良事件的数据。随后,在多次会议、协议修订和翻译之后,在 CONNECT MetabERN eHealth 项目的背景下生成了网站 www.emergencyprotocol.net。代表 470 个紧急协议年,54/128 (42%) 名使用基于通用紧急方案生成的紧急信件的患者记录了 127 次住院。低血糖症(此处定义为血糖浓度 < 3.9 mmol/L)仅在 15% 的住院患者中报告,并且在酮症 GSD 患者和年龄 > 5 岁的FAOD 患者中并不常见。没有记录抽搐、昏迷或死亡。通过提供基本信息,可以在 www.emergencyprotocol.net 上以九种不同的语言生成针对个别肝 GSD 或主要FAOD 患者的紧急信件。通用紧急方案对于护理人员的家庭管理和院内管理的第一个小时是安全和容易的,以防止肝脏 GSD 和中链酰基辅酶 A 脱氢酶缺乏症患者的代谢紧急情况。该网站 www.
更新日期:2021-04-12
中文翻译:
先天性代谢错误导致禁食不耐受患者的通用紧急方案:回顾性单中心研究和 www.emergencyprotocol.net 的生成
先天性代谢错误导致禁食不耐受的患者可能会出现急性代谢失代偿。缺乏使用紧急信件的结果的长期数据。这是一项回顾性、观察性、单中心研究,基于通用紧急方案在肝糖原贮积病 (GSD) 或脂肪酸氧化障碍 (FAOD) 患者中使用紧急信件。收集了有关入院、初步实验室结果和严重不良事件的数据。随后,在多次会议、协议修订和翻译之后,在 CONNECT MetabERN eHealth 项目的背景下生成了网站 www.emergencyprotocol.net。代表 470 个紧急协议年,54/128 (42%) 名使用基于通用紧急方案生成的紧急信件的患者记录了 127 次住院。低血糖症(此处定义为血糖浓度 < 3.9 mmol/L)仅在 15% 的住院患者中报告,并且在酮症 GSD 患者和年龄 > 5 岁的FAOD 患者中并不常见。没有记录抽搐、昏迷或死亡。通过提供基本信息,可以在 www.emergencyprotocol.net 上以九种不同的语言生成针对个别肝 GSD 或主要FAOD 患者的紧急信件。通用紧急方案对于护理人员的家庭管理和院内管理的第一个小时是安全和容易的,以防止肝脏 GSD 和中链酰基辅酶 A 脱氢酶缺乏症患者的代谢紧急情况。该网站 www.