Abstract

ARANZAMENDI, Roberto J et al. Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant. Arch. argent. pediatr. [online]. 2008, vol.106, n.5, pp.443-446. ISSN 0325-0075.

Cystic fibrosis (CF) may present during neonatal period with classic clinic symptoms related to the disease. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of vomiting, anorexia, weight loss, dehydration and electrolyte abnormalities, such as metabolic alkalosis, hyponatremia, hypokalemia and hypochloremia. CF was diagnosed after the third episode showing an unusual and not very publicized presentation of the disease. Mutations !F 508 and 2789+5G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with anorexia, vomiting, failure to thrive, that are associated with recurrent episodes of hyponatremic hypochloremic, dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive.

Keywords : Cystic fibrosis; Hypochloremic metabolic alkalosis; Dehydration; Hiponatremia; Hypokalemia; 2789+5G-A mutation.

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