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Cystic fibrosis in South India
Insights
This study reports on three South Indian infants diagnosed with cystic fibrosis, presenting with rare symptoms like edema and anemia. Early diagnosis and intervention are crucial for managing this genetic disorder.
Area of Science:
- Pediatrics
- Genetics
- Gastroenterology
Background:
- Cystic fibrosis (CF) is a rare genetic disorder affecting multiple organs.
- Early diagnosis is critical for effective management and improved outcomes.
Observation:
- Three South Indian infants, aged 23 days to 6 months, were diagnosed with cystic fibrosis.
- All presented with a rare triad of gross edema, hypoproteinemia, and anemia.
- Two infants had elevated sweat sodium and chloride levels; one had normal levels.
Findings:
- Autopsies revealed characteristic cystic fibrosis changes in the pancreas, lungs, liver, and small intestine.
- The clinical presentation and autopsy findings confirmed cystic fibrosis in all three infants.
- This is the first report of this triad in infants from South India.
Implications:
- Highlights the importance of considering cystic fibrosis in infants with unexplained edema and anemia.
- Emphasizes the need for increased awareness and diagnostic capabilities for cystic fibrosis in South India.
- Suggests potential genetic or environmental factors influencing CF presentation in this region.
Abstract:
Cystic fibrosis has been diagnosed during life in three South Indian infants on the basis of characteristic clinical features and a positive sweat test. The patients were respectively 81 days, 23 days and 6 months old. All three presented with the rare characteristic triad of gross oedema, hypoproteinaemia and moderate to severe anaemia; it is described for the first time from South India. Three patients were exclusively breast-fed; the third received complements of diluted cow's milk. Sweat sodium and chloride were elevated in the first two cases and was normal in the third. All three died with progressive deterioration 10, 31 and 7 days respectively after admission in the hospital. At autopsy, changes typical of cystic fibrosis were present in pancreas, lung, liver and the small intestine of one, in the lungs of the second and in pancreas and liver of the third case.