伊朗代谢的先天性错误:来自伊朗代谢登记处的第一份报告

IF 0.4 4区医学 Q4 PEDIATRICS

Iranian Journal of Pediatrics Pub Date : 2023-06-19 DOI:10.5812/ijp-130939

F. Abbasi, Saideh Abdolahpour, Reihaneh Mohsenipour, A. Rabbani, Ali Talea, A. Mohebbi, M. Khazdouz

{"title":"伊朗代谢的先天性错误:来自伊朗代谢登记处的第一份报告","authors":"F. Abbasi, Saideh Abdolahpour, Reihaneh Mohsenipour, A. Rabbani, Ali Talea, A. Mohebbi, M. Khazdouz","doi":"10.5812/ijp-130939","DOIUrl":null,"url":null,"abstract":"Background: Inborn errors of metabolism (IEMs) comprise over 1,000 disorders. Wide geographical and racial variations in the global birth prevalence and their inheritance patterns have been reported by epidemiological studies. Methods: Iran's Metabolic Registry was launched in March 2017. All patients diagnosed with IEM registered in the Iran Metabolic Registry from 2017 to July 2022 were included in this study. Results: During the five years, 1,233 patients were recorded in the database. Due to missing data, 320 patients were excluded from the study. Of the 913 registered patients, 402 were female, and 511 were male. The median age of registered patients was 10.3 years (one week to 48.3 years). The most prevalent group of IEMs was amino acid disorders, with 596 (66.6%) patients. The mortality rate of the patients was 36.5%. Conclusions: This study represents the first report from the IEM registry. A comprehensive registry of IEMs for collecting patient data will help clinicians with more accurate diagnoses of the disorders, monitoring, and follow-up. Furthermore, by estimating the burden of IEMs, the healthcare system and government could accurately assess the medication and equipment needed.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry\",\"authors\":\"F. Abbasi, Saideh Abdolahpour, Reihaneh Mohsenipour, A. Rabbani, Ali Talea, A. Mohebbi, M. Khazdouz\",\"doi\":\"10.5812/ijp-130939\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background: Inborn errors of metabolism (IEMs) comprise over 1,000 disorders. Wide geographical and racial variations in the global birth prevalence and their inheritance patterns have been reported by epidemiological studies. Methods: Iran's Metabolic Registry was launched in March 2017. All patients diagnosed with IEM registered in the Iran Metabolic Registry from 2017 to July 2022 were included in this study. Results: During the five years, 1,233 patients were recorded in the database. Due to missing data, 320 patients were excluded from the study. Of the 913 registered patients, 402 were female, and 511 were male. The median age of registered patients was 10.3 years (one week to 48.3 years). The most prevalent group of IEMs was amino acid disorders, with 596 (66.6%) patients. The mortality rate of the patients was 36.5%. Conclusions: This study represents the first report from the IEM registry. A comprehensive registry of IEMs for collecting patient data will help clinicians with more accurate diagnoses of the disorders, monitoring, and follow-up. Furthermore, by estimating the burden of IEMs, the healthcare system and government could accurately assess the medication and equipment needed.\",\"PeriodicalId\":14593,\"journal\":{\"name\":\"Iranian Journal of Pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2023-06-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Iranian Journal of Pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5812/ijp-130939\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5812/ijp-130939","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

摘要

背景:先天性代谢错误(IEMs)包括1000多种疾病。流行病学研究报告了全球出生流行率及其遗传模式的广泛地理和种族差异。方法:伊朗的代谢登记处于2017年3月启动。2017年至2022年7月在伊朗代谢登记处登记的所有诊断为IEM的患者均纳入本研究。结果:在5年的时间里，数据库中记录了1233例患者。由于数据缺失，320例患者被排除在研究之外。在913名登记病人中，女性402人，男性511人。登记患者的中位年龄为10.3岁(1周到48.3岁)。最常见的是氨基酸紊乱，596例(66.6%)。患者死亡率为36.5%。结论:本研究是来自IEM注册中心的第一份报告。收集患者数据的综合内科医生登记处将有助于临床医生更准确地诊断疾病、监测和随访。此外，通过估算内科医生的负担，医疗保健系统和政府可以准确地评估所需的药物和设备。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry

Background: Inborn errors of metabolism (IEMs) comprise over 1,000 disorders. Wide geographical and racial variations in the global birth prevalence and their inheritance patterns have been reported by epidemiological studies. Methods: Iran's Metabolic Registry was launched in March 2017. All patients diagnosed with IEM registered in the Iran Metabolic Registry from 2017 to July 2022 were included in this study. Results: During the five years, 1,233 patients were recorded in the database. Due to missing data, 320 patients were excluded from the study. Of the 913 registered patients, 402 were female, and 511 were male. The median age of registered patients was 10.3 years (one week to 48.3 years). The most prevalent group of IEMs was amino acid disorders, with 596 (66.6%) patients. The mortality rate of the patients was 36.5%. Conclusions: This study represents the first report from the IEM registry. A comprehensive registry of IEMs for collecting patient data will help clinicians with more accurate diagnoses of the disorders, monitoring, and follow-up. Furthermore, by estimating the burden of IEMs, the healthcare system and government could accurately assess the medication and equipment needed.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Iranian Journal of Pediatrics 医学-小儿科

CiteScore

0.90

自引率

20.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Iranian Journal of Pediatrics (Iran J Pediatr) is a peer-reviewed medical publication. The purpose of Iran J Pediatr is to increase knowledge, stimulate research in all fields of Pediatrics, and promote better management of pediatric patients. To achieve the goals, the journal publishes basic, biomedical, and clinical investigations on prevalent diseases relevant to pediatrics. The acceptance criteria for all papers are the quality and originality of the research and their significance to our readership. Except where otherwise stated, manuscripts are peer-reviewed by minimum three anonymous reviewers. The Editorial Board reserves the right to refuse any material for publication and advises that authors should retain copies of submitted manuscripts and correspondence as the material cannot be returned. Final acceptance or rejection rests with the Editors.