Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need
Priyanka Medhi1, Grace R Paul2, Madhan Kumar1
1Department of Paediatrics, Christian Medical College, Vellore 632004, India.
Insights
Early diagnosis of cystic fibrosis (CF) in infants is crucial. Key indicators like anemia and edema predict mortality, highlighting the need for improved screening and primary care integration in India.
Area of Science:
- Pediatrics
- Medical Genetics
- Public Health
Background:
- Delayed diagnosis of cystic fibrosis (CF) in India leads to increased infant morbidity and mortality.
- Newborn screening (NBS) for CF improves outcomes, but its implementation varies globally.
Purpose of the Study:
- To characterize early clinical features of CF in infants diagnosed before one year of age in South India.
- To identify factors associated with mortality in infants with CF.
- To inform strategies for earlier diagnosis and improved outcomes.
Main Methods:
- Retrospective study of 56 infants diagnosed with CF before age one at a single center in South India (2017-2025).
- Analysis of demographic, clinical, and genetic data.
- Statistical analysis to identify predictors of mortality.
Main Results:
- 59% of infants survived, with a median age of 55 months; 41% died, with a median age of 5 months.
- Significant mortality predictors included hypoalbuminemia (OR 9.7), severe malnutrition (OR 4.4), severe anemia requiring transfusion (OR 3.0), and peripheral edema (OR 4.2).
- A triad of anemia, hypoalbuminemia, and edema strongly predicted death (OR 4.2).
Conclusions:
- Early clinical indicators such as anemia, hypoalbuminemia, and edema are critical for identifying infants at high risk of mortality from CF.
- Integrating clinical checklists into primary healthcare can facilitate prompt referral and earlier diagnosis.
- Advocacy for newborn screening remains essential to reduce preventable CF-related infant deaths.
Abstract:
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 < 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.
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