Article: Risk for Dehydration and Fluid and Electrolyte Disorders Among Cystic Fibrosis Carriers

Authors: Sulyun Lee, Logan M Harris, Aaron C Miller, Joseph E Cavanaugh, Jonathan M Nizar, Jacob E Simmering, Mahmoud H Abou Alaiwa, Linnea A Polgreen, Philip M Polgreen

Journal: Am J Kidney Dis. 2023 Nov 10:S0272-6386(23)00896-X. doi: 10.1053/j.ajkd.2023.09.011. Online ahead of print.

Excerpt:
Cystic fibrosis (CF) is an autosomal recessive disease characterized by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) gene, which encodes a chloride and bicarbonate channel.1,2 CFTR is expressed in many different organ systems, including sweat glands.3,4 Although people with CF secrete normal primary sweat,3,5 they fail to reabsorb chloride (and sodium), resulting in sweat sodium and chloride concentrations 3-5 times higher than in people without CF.6 Accordingly, excessive sweating, without replenishment of fluids and electrolytes, can result in profound sodium and chloride depletion, secondary hyperaldosteronism, and hypokalemic metabolic alkalosis.7

Traditionally, people with only 1 CFTR mutation (CF carriers) were not thought to be at risk for CF-related diseases.8,9 However, CF carriers may be at increased risk for almost all CF-related conditions, albeit at substantially less risk than people with CF.10 Here we examine the association between CF carrier status and the risk of developing dehydration and specific fluid and electrolyte disorders.

Link to journal online: https://www.sciencedirect.com/science/article/pii/S027263862300896X