{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T05:36:20Z","timestamp":1734672980385,"version":"3.32.0"},"reference-count":26,"publisher":"Baishideng Publishing Group Inc.","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World J Clin Pediatr"],"abstract":"BACKGROUND<\/jats:p>\n 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.<\/jats:p>\n AIM<\/jats:p>\n To report a case of the coexistence of sickle cell anemia (SCA) and CF and perform an integrative literature review.<\/jats:p>\n METHODS<\/jats:p>\n 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.<\/jats:p>\n RESULTS<\/jats:p>\n 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.<\/jats:p>\n CONCLUSION<\/jats:p>\n This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.<\/jats:p>","DOI":"10.5409\/wjcp.v14.i1.97537","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:15:39Z","timestamp":1734653739000},"source":"Crossref","is-referenced-by-count":0,"title":["Importance of neonatal screening: A case study of sickle cell disease and cystic fibrosis coexistence"],"prefix":"10.5409","volume":"14","author":[{"given":"Nathalia Noyma Sampaio","family":"Magalh\u00e3es","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas Barra","family":"Mathiasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela de Oliveira","family":"Werneck Rodrigues","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2060","published-online":{"date-parts":[[2025,3,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rpped.2014.08.001"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jped.2019.02.008"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1590\/s0102-311x2003000400040"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.25248\/reamed.e10861.2022"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.36416\/1806-3756\/e20210140"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.5935\/2238-3182.20200019"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1100\/tsw.2008.157"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.10233"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2023-064657"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1542\/pir.2019-0212"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.3390\/ijns1010013"},{"key":"B12","unstructured":"Banjar HH. 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