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":"1 1","pages":""},"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\":\"1 1\",\"pages\":\"\"},\"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}
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.
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.