Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent

J Am Soc Nephrol. 1997 Feb;8(2):352-5. doi: 10.1681/ASN.V82352.

Abstract

Cystic fibrosis (CF) is an exocrine disease affecting multiple organ systems. Patients with CF usually present with respiratory or gastrointestinal abnormalities. This study presents a case of a previously healthy 17-yr-old man who was diagnosed with CF after presenting with metabolic alkalosis and hypokalemia. The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts primarily as a chloride channel. Partially functional CFTR may be associated with less severe pulmonary and gastrointestinal manifestations, as in the case presented. Dysfunctional CFTR in the sweat ducts of CF patients are responsible for excessive chloride and sodium losses, especially in warm weather. Hypokalemia seen with heat stress is secondary to sweat as well as renal potassium wasting. Metabolic alkalosis is maintained by the excessive sweat sodium chloride losses which leads to extracellular fluid (ECF) volume contraction and chloride depletion. Generation of alkalosis may be related to dysfunctional CFTR in the kidney, but is most likely secondary to hypokalemia with ECF volume contraction. Finally, one must consider CF when confronted with hypokalemia and alkalosis in a previously healthy patient.

Publication types

  • Case Reports

MeSH terms

  • Acidosis / etiology*
  • Adolescent
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • Genotype
  • Humans
  • Hyperaldosteronism / etiology
  • Hypokalemia / etiology*
  • Male
  • Mutation
  • Sweat / metabolism

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator