{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T06:17:20Z","timestamp":1773037040924,"version":"3.50.1"},"reference-count":28,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T00:00:00Z","timestamp":1755820800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"U.S. Cystic Fibrosis Foundation","award":["CFF PAUL18Q10"],"award-info":[{"award-number":["CFF PAUL18Q10"]}]},{"name":"U.S. Cystic Fibrosis Foundation","award":["CFF LAI17A0"],"award-info":[{"award-number":["CFF LAI17A0"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) improves clinical outcomes, but in countries like India, delayed diagnosis increases morbidity, mortality, and likely underestimates infant deaths from CF. We performed a retrospective study at a single center in south India from 2017 to 2025 reviewing children diagnosed with CF before one year of age. Patient demographic, clinical, and genetic data were analyzed to characterize early clinical features and identify factors linked to mortality. Of 56 infants diagnosed with CF, 59% survived (median current age 55 months) while 41% died (median age of death 5 months). Key clinical indicators included sibling death with CF-like symptoms, rapid weight loss, and persistent respiratory or nutritional complications. Mortality risk under one year was significantly linked to hypoalbuminemia (OR 9.7), severe malnutrition (OR 4.4), severe anemia (hemoglobin &lt; 7 g\/dL) requiring blood transfusions (OR 3.0), and peripheral edema (OR 4.2). A triad of anemia, hypoalbuminemia, and edema was found to strongly predict death (OR 4.2). Integrating clinical checklists of these manifestations into primary healthcare may improve prompt referrals for earlier diagnosis and treatment. Continued education and advocacy for NBS are essential to reduce potentially preventable CF-related deaths in young children.<\/jats:p>","DOI":"10.3390\/ijns11030067","type":"journal-article","created":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T13:47:49Z","timestamp":1755870469000},"page":"67","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4180-117X","authenticated-orcid":false,"given":"Priyanka","family":"Medhi","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0963-1784","authenticated-orcid":false,"given":"Grace R.","family":"Paul","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine, Nationwide Children\u2019s Hospital, Columbus, OH 43205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0435-8902","authenticated-orcid":false,"given":"Madhan","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace","family":"Rebekah","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0036-7016","authenticated-orcid":false,"given":"Philip M.","family":"Farrell","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, 600 Highland Avenue, Madison, WI 53792, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolly","family":"Chandran","sequence":"additional","affiliation":[{"name":"Paediatric Critical Care Unit, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6376-8071","authenticated-orcid":false,"given":"Rekha","family":"Aaron","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Department of Medical Genetics, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"Chapla","sequence":"additional","affiliation":[{"name":"Molecular Endocrinology Laboratory, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sneha D.","family":"Varkki","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Christian Medical College, Vellore 632004, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Farrell, P.M., Paul, G.R., and Varkki, S.D. 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