Nathalia Noyma Sampaio Magalhães, Lucas Barra Mathiasi, Daniela de Oliveira Werneck Rodrigues
{"title":"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。","authors":"Nathalia Noyma Sampaio Magalhães, Lucas Barra Mathiasi, Daniela de Oliveira Werneck Rodrigues","doi":"10.5409/wjcp.v14.i1.97537","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>To report a case of the coexistence of sickle cell anemia (SCA) and CF and perform an integrative literature review.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>This study adds to the few case reports present in the literature that highlight the identification of two severe diseases <i>via</i> NS.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 1","pages":"97537"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686575/pdf/","citationCount":"0","resultStr":"{\"title\":\"Importance of neonatal screening: A case study of sickle cell disease and cystic fibrosis coexistence.\",\"authors\":\"Nathalia Noyma Sampaio Magalhães, Lucas Barra Mathiasi, Daniela de Oliveira Werneck Rodrigues\",\"doi\":\"10.5409/wjcp.v14.i1.97537\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>To report a case of the coexistence of sickle cell anemia (SCA) and CF and perform an integrative literature review.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>This study adds to the few case reports present in the literature that highlight the identification of two severe diseases <i>via</i> NS.</p>\",\"PeriodicalId\":75338,\"journal\":{\"name\":\"World journal of clinical pediatrics\",\"volume\":\"14 1\",\"pages\":\"97537\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686575/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"World journal of clinical pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5409/wjcp.v14.i1.97537\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"World journal of clinical pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5409/wjcp.v14.i1.97537","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.