伊朗枫糖尿症诊断与管理综合指南：基于证据和共识的方法
Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
作者信息
Rostampour Noushin, Dalili Setila, Moravej Hossein, Afshar Zhila, Yazdani Negar, Mousavi Seyedeh Tahereh, Rostami Parastoo, Zamanfar Daniel, Yahay Maryam, Nikravesh Abdolhossein, Beyzaei Zahra, Davoodi Mohamad Ahangar, Sedaghat Atefeh, Hakemzadeh Tahora, Talea Ali
机构信息
Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
出版信息
Orphanet J Rare Dis. 2025 Jan 7;20(1):8. doi: 10.1186/s13023-025-03533-6.
Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD. MSUD happens in about 1 in 86,800 to 185,000 live births. According to some diversity in the management of Iranian patients with MSUD, the development of a national guideline is essential. This guideline is provided through a literature search on articles in PubMed, Scopus, Web of Sciences, Cochrane, and Embase databases from 2001 to 2022 accompanied by a consensus of physicians of different centers in Iran who are experts in the diagnosis and management of this disease. This article considers pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment, and monitoring of MSUD patients with limited recourse.
枫糖尿症（MSUD）是支链2-酮酸脱氢酶复合体（BCKDH）功能缺陷所致的疾病。它由BCKDHA、BCKA脱羧酶或二氢硫辛酰胺脱氢酶的致病性双等位基因变异引起。大脑是MSUD中受累的主要器官。MSUD在每86,800至185,000例活产中约有1例发生。鉴于伊朗MSUD患者管理存在一些差异，制定国家指南至关重要。本指南通过检索2001年至2022年PubMed、Scopus、科学网、Cochrane和Embase数据库中的文章，并结合伊朗不同中心擅长该疾病诊断和管理的医生达成的共识而制定。本文探讨了资源有限的MSUD患者的发病机制、流行病学、临床表现、诊断、治疗及监测。
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