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Too much salt, too little soda： cystic fibrosis

Quinton P M

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0831

Abstract

Cystic fibrosis （CF） of the pancreas is the most widely accepted name of the most common fatal inherited single gene defect disease among Caucasians. Its incidence among other races is thought to be significantly less, but mutations in the gene have been reported in most, if not all, major populations. This review is intended to give general concepts of the molecular as well as physiological basis of the pathology that develops in the disease. First, an overview of the organ pathology and genetics is presented, followed by the molecular structure of the gene product （cystic fibrosis transmembrane conductance regulator, CFTR）, its properties, functions, and controls as currently understood. Second, since mutations appear to be expressed primarily as a defect in electrolyte transport, effects and mechanisms of pathology are presented for two characteristically affected organs where the etiology is best described： the sweat gland, which excretes far too much NaCl （“salt”） and the pancreas, which excretes far too little HCO_(3)~(-) （“soda”）. Unfortunately, morbidity and mortality in CF develop principally from refractory airway infections, the basis of which remains controversial. Consequently, we conclude by considering possible mechanisms by which defects in anion transport might predispose the CF lung to chronic infections.

Key words: sweat glands;pancreas;airways;ion transport;mucus;cystic fibrosis transmembrane conductance regulator;chloride;bicarbonate;genetic disease

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Citing This Article：

Quinton P M. Too much salt, too little soda： cystic fibrosis. Acta Physiol Sin 2007; 59 (4): 397-415 (in Chinese with English abstract).