孟加拉国苯丙酮尿症新生儿筛查和管理方案的现状和未来方向

Q3 Medicine
A. Al-Bari
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引用次数: 1

摘要

苯丙酮尿症(PKU)是一种可纠正的先天性代谢错误,可导致致命的智力迟缓和神经行为异常。筛查包,特别是早期识别,可以支持调节大多数患者的PKU过程。任何国家的新生儿筛查计划都侧重于遗传缺乏性疾病的早期发现,以便通过适当的药物治疗避免最严重的后果。该筛查方案需要伴随诊断并涉及额外的临床研究。发达国家的战略建议,应在新生儿出生后在出院前尽快进行新生儿筛查,因为如果晚些时候发现,可能会大大增加残疾和发病率。虽然不同国家的具体方案不同,但在发达国家,PKU的检测程序应遵循普遍认可的标准。不幸的是,孟加拉国的新生儿筛查项目是在病房里进行的,或者可能是在特定医院的试点研究中进行的,因为卫生保健系统的目标通常是死亡率(如分娩并发症)和传染性发病率(如COVID-19),而不是先天缺陷。虽然对分娩并发症的政策和管理已经成功地降低了婴儿和母亲的死亡率,但残疾婴儿的数量却大大增加。本研究旨在调查孟加拉国Rajshahi地区PKU新生儿筛查(NBS)项目的现状,并重点研究未来终身治疗管理计划。主要的挑战,如对新生儿筛查和宣传的财政支持,应该确定并实施国家PKU-NBS政策,作为孟加拉国发展中国家的榜样。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh
Abstract Phenylketonuria (PKU) is a correctable inborn error of metabolism which causes lethal intellectual delay and neurobehavioral anomalies. A screening package, especially for early recognition can support to regulate the PKU process of most patients. New-born screening program in any country focuses at the earliest detection of inheritance deficiency disorders in order to avoid the most severe repercussion by appropriate medication. This screening program needs a concomitant diagnosis and involves additional clinical research. Strategies from developed countries recommend that new-born screening should be done as soon as possible after birth before hospital/clinic discharge because if detected later, it conveys to significantly increase in disability as well as morbidity. Although exact protocol differs among different countries, testing procedures for PKU should be followed universally recognized in the developed world. Unfortunately, new-born screening program in Bangladesh is in lying-in room or possibly in pilot study in particular hospital, because the health-care system is classically targeted mortality (like childbirth complications) and transmittable morbidities (such as COVID-19) but not inborn frailties. Although policies and management of childbirth complications have been successfully lowered infant and mother mortality rates, the number of disabled babies increased tremendously. The study aims to investigate the current status of new-born screening (NBS) program of PKU in the Rajshahi Division Bangladesh, and focus on future plans to manage with life-long treatment. The primary challenges such as financial support for newborn screening, publicity, should be identified and implemented for national PKU-NBS policy as a role model of Bangladesh for developing countries.
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来源期刊
CiteScore
0.60
自引率
0.00%
发文量
7
审稿时长
12 weeks
期刊介绍: The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome. JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.
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