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[Fibrocystic disease of the pancreas: a presentation feature. Anatomopathological report]
Insights
This study highlights severe malnutrition and related complications in infants with cystic fibrosis (CF). Early diagnosis and intervention are crucial for improving outcomes in these vulnerable children.
Area of Science:
- Pediatrics
- Medical Genetics
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Infantile malnutrition presents significant diagnostic challenges.
Observation:
- Five infants with CF died between 1974-1982, aged 1-6 months.
- All presented with severe edema, hypoalbuminemia, anemia, and failure to thrive.
- Four infants were breast-fed initially but still failed to gain weight.
Findings:
- Patients were classified as second or third-degree malnourished (Gomez).
- Hematocrit averaged 26.4% and albuminemia 2.14 g/dL.
- All received pancreatic enzyme therapy but died within 7-17 days from bronchopulmonary dysfunction.
Implications:
- Emphasizes the critical need for early presumptive diagnosis of CF in infants presenting with severe malnutrition and edema.
- Highlights the importance of timely and appropriate management strategies for CF in early infancy.
- Suggests a need for increased awareness among pediatricians regarding CF presentation in the first months of life.
Abstract:
Five patients with CF (cystic fibrosis) dead between 1974 to 1982 at ages ranging from one to six months are presented. All of them showed edema, hypoalbuminemia and anemia in a severely compromised clinical situation, and failure to gain weight in spite of being breast-fed in the first weeks of life, in four of them. All of them were second or third degree malnourished babies (Gomez classification) at admission. Five children presented edema, two severe, two moderate and one mild. Hematocrit values ranged from 19% to 39% (means 26.4%), and albuminemia from 1.60 to 3.00 g/% (means 2.14 g/%). Two patients presented antecedents of dead brothers. All of them received substitution therapy with pancreatic enzymes. The children dead within seven and seventeen days of admission (means ten days) of broncho-pulmonar disfunction. In this work, we wish to call the pediatrician's attention about the importance of making this diagnostic presumption in the first months of the life.