A child is brought to the pediatric OPD with high grade fever of 24 hours duration. History reveals 3 episodes of chest infection and passage of foul smelling stools. The most probable diagnosis is:
High grade fever and recurrent chest infection along with passage of foul smelling stools (steatorrhea) suggests a diagnosis of cystic fibrosis. In cystic fibrosis because of pancreatic exocrine insufficiency, foul smelling stool (steatorrhea) is common. Cystic fibrosis: Autosomal recessive disease Mutation in cystic fibrosis transmembrane conductor regulator (CFTR) gene on chromosome 7q There is defective transpo of chloride and not calcium in cystic fibrosis. C/F's: Recurrent respiratory infections Azoospermia and infeility Exocrine pancreatic insufficiency causing steatorrhea Recurrent acute/chronic pancreatitis Biliary cirrhosis Failure to thrive Salt depletion Vitamin deficiencies
Cystic fibrosis
Maple syrup urine disease
Bilirubin conjugation defect
Criggler Najar syndrome
Other Respiratory Disorders