Magalhães Nathalia Noyma Sampaio, Mathiasi Lucas Barra, Werneck Rodrigues Daniela de Oliveira
Department of Pediatrics, Faculdade de Ciências Médicas e da Saúde de Juiz de Fora, Juiz de Fora 36033-003, Brazil.
Department of Internal Medicine, Rede D'Or Rio de Janeiro, Rio de Janeiro 22270-010, Brazil.
World J Clin Pediatr. 2025 Mar 9;14(1):97537. doi: 10.5409/wjcp.v14.i1.97537.
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.
To report a case of the coexistence of sickle cell anemia (SCA) and CF and perform an integrative literature review.
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.
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.
This study adds to the few case reports present in the literature that highlight the identification of two severe diseases NS.
新生儿筛查（NS）是一项公共卫生政策，用于识别诸如囊性纤维化（CF）、镰状细胞病及其他疾病等遗传疾病。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统称。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中的有害突变，该基因编码一种调节细胞表面上皮中氯离子和钠离子通道活性的蛋白质。新生儿筛查对于早期诊断和管理至关重要，可确保更好的生活质量。
报告一例镰状细胞贫血（SCA）与CF并存的病例，并进行综合文献综述。
这是一项观察性研究及文献综述，从临床病例角度关注在新生儿筛查中同时发现的两种罕见遗传疾病。作者仅发现5例与CF相关的SCA病例。鉴于这两种疾病并存的罕见性，未找到相关临床试验或综述文章。
在此，作者报告了一名女孩的病例，该女孩在出生第8天接受新生儿筛查后被诊断为SCA，免疫反应性胰蛋白酶剂量发生改变。通过电量分析法汗液试验确诊为CF。这两种严重遗传疾病（CF和SCA）同时出现的罕见性对医学来说是一项挑战。
本研究补充了文献中少数强调在新生儿筛查中识别出两种严重疾病的病例报告。
