Importance of neonatal screening:A case study of sickle cell disease and cystic fibrosis coexistence  

作　　者：Nathalia Noyma Sampaio Magalhães Lucas Barra Mathiasi Daniela de Oliveira Werneck Rodrigues 

机构地区：[1]Department of Pediatrics,Faculdade de Ciências Médicas e da Saúde de Juiz de Fora,Juiz de Fora 36033-003,Brazil [2]Department of Internal Medicine,Rede D'Or Rio de Janeiro,Rio de Janeiro 22270-010,Brazil [3]Department of Hematology,Fundação Hemominas,Juiz de Fora 36010-560,MG,Brazil [4]Department of Internal Medicine,Universidade Presidente Antônio Carlos-Faculdade de Medicina Juiz de Fora,Juiz de Fora 36010-560,Minas Gerais,Brazil

出　　处：《World Journal of Clinical Pediatrics》2025年第1期113-118,共6页世界临床儿科杂志（英文）

摘　　要：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 disea-se 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 re-gulatory 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.

关 键 词：Sickle cell disease Sickle cell anemia CHILDREN Cystic fibrosis Neonatal Screening Case reports 

分 类 号：R722.1[医药卫生—儿科]