Shakiba Marjan, Yasaei Mehrdad, Saneifard Hedyeh, Mosallanejad Asieh, Alaei Mohammad Reza, Kobarfard Farzad, Esfahanizadeh Marjan, Anousheh Narges
Department of Pediatric Endocrinology & Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medicinal Chemistry, School of Pharmacy, Phytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mol Genet Metab Rep. 2024 Jun 19;40:101103. doi: 10.1016/j.ymgmr.2024.101103. eCollection 2024 Sep.
Inherited metabolic diseases (IMD) are a group of rare genetic disorders that can present with a variety of symptoms. Since these disorders are hard to treat once the symptoms occur, neonatal screening may be a logical strategy. Here we evaluate the first results of national expanded IMD screening in Iran. A total of 46 IMDs were screened in this national program. Between April 2018 and March 2022, all infants who underwent national IMD screening at Shahid Beheshti University of Medical Sciences were included in this study. History and Physical examinations of infants, screening results, recall rate, response rate, and prevalence of IMDs were evaluated. A total of 125,819 infants were screened during this period. The recall rate of the test was 0.81%. 124 cases were diagnosed with a definite IMD and the raw overall prevalence of IMDs was estimated to be 1:1015. Aminoacidopathies were the most commonly detected disorders and Hyperphenylalaninemia/PKU was the most prevalent disorder among all groups. Since IMDs vary from region even in a single country, screening for IMDs is crucial in societies with a high rate of consanguineous marriages. More studies are essential for figuring out the most efficient combination of diseases to be screened based on countries' facilities.
遗传性代谢疾病（IMD）是一组罕见的遗传疾病，可表现出多种症状。由于这些疾病一旦出现症状就难以治疗，新生儿筛查可能是一种合理的策略。在此，我们评估了伊朗全国扩大IMD筛查的首批结果。在这个国家项目中总共筛查了46种IMD。在2018年4月至2022年3月期间，所有在谢赫·贝赫什提医科大学接受全国IMD筛查的婴儿都被纳入本研究。对婴儿的病史和体格检查、筛查结果、召回率、应答率以及IMD的患病率进行了评估。在此期间共筛查了125,819名婴儿。该检测的召回率为0.81%。124例被确诊患有明确的IMD，IMD的原始总体患病率估计为1:1015。氨基酸病是最常检测到的疾病，高苯丙氨酸血症/苯丙酮尿症是所有组中最普遍的疾病。由于即使在一个国家内，IMD也因地区而异，因此在近亲结婚率高的社会中，IMD筛查至关重要。基于各国的设施，开展更多研究对于确定要筛查的最有效疾病组合至关重要。
