All of the following clinical features are seen in a patient with cystic fibrosis, EXCEPT:-
Correct Answer: Metabolic acidosis
Description: Cystic fibrosis is associated with hypochloremic metabolic alkalosis not metabolic acidosis. It can also cause respiratory acidosis. Impoant causes of chronic respiratory acidosis in children are chronic lung disease, cystic fibrosis, extensive bronchiectasis and neuromuscular defects. Children with cystic fibrosis develop cough, wheezing, recurrent pneumonias, progressive obstructive airways disease, exercise intolerance, dyspnea, and hemoptysis. During infancy and beyond they present as failure to thrive due to malabsorption from exocrine pancreatic insufficiency. These children fail to gain weight despite good appetite and typically have frequent, bulky, foul-smelling, oily stools. It should also be suspected in children who present with severe dehydration and hypochloremic alkalosis. Diagnosis is made when sweat chloride level is more than 60 mmol/l in the presence of one or more typical clinical features such as chronic sinopulmonary disease, pancreatic insufficiency, salt loss syndromes or with presence of an appropriate family history. Diagnosis can be confirmed by genotyping that reveals two disease-causing mutations. Ref: CURRENT Diagnosis & Treatment: Pediatrics, 21e chapter 19.
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