新生儿筛查的重要性:镰状细胞病和囊性纤维化共存的案例研究。

Nathalia Noyma Sampaio Magalhães, Lucas Barra Mathiasi, Daniela de Oliveira Werneck Rodrigues
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引用次数: 0

摘要

背景:新生儿筛查(NS)是一项公共卫生政策,用于识别遗传病理,如囊性纤维化(CF)、镰状细胞病和其他疾病。镰状细胞病是一组以血红蛋白s存在为特征的血红蛋白病的综合术语。CF是一种常染色体隐性多系统疾病,其病理生理学涉及跨膜调节基因的有害突变,该基因编码一种调节细胞表面上皮中氯和钠通道活性的蛋白质。NS对于早期诊断和管理至关重要,从而确保更好的生活质量。目的:报道一例镰状细胞性贫血(SCA)和CF共存的病例,并进行综合文献复习。方法:本研究是一项观察性研究,并从临床病例的角度对NS中同时发现的两种罕见遗传病理进行文献综述。作者只发现了5例SCA与CF相关的病例。考虑到这两种病理共存的罕见性,没有发现临床试验或综述文章。结果:在此,作者报告了一名女孩,她在出生第8天接受NS后被诊断为SCA,免疫反应性胰蛋白酶的剂量发生了变化。通过库仑汗液试验证实CF的诊断。罕见的这两种严重的遗传病理(CF和SCA)共同发生是一个挑战的医学科学。结论:本研究增加了文献中少数病例报告,强调通过NS识别两种严重疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Importance of neonatal screening: A case study of sickle cell disease and cystic fibrosis coexistence.

Background: Neonatal screening (NS) is a public health policy to identify genetic pathologies such as cystic fibrosis (CF), sickle cell disease, and other diseases. Sickle cell disease is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S. CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane regulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium. NS is crucial for early diagnosis and management, which ensures a better quality of life.

Aim: To report a case of the coexistence of sickle cell anemia (SCA) and CF and perform an integrative literature review.

Methods: This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case. The authors identified only 5 cases of SCA associated with CF. No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.

Results: Herein, the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin. The diagnosis of CF was confirmed by the Coulometry Sweat Test. The rarity of the co-occurrence of these two severe genetic pathologies (CF and SCA) is a challenge for medical science.

Conclusion: This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

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