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Editorial
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Volume 347:439-442 August 8, 2002 Number 6
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What Is Cystic Fibrosis?

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 by Groman, J. D.
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Cystic fibrosis is a heterogeneous recessive genetic disorder with pathobiologic features that reflect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Classic cystic fibrosis reflects two loss-of-function mutations in the CFTR gene and is characterized by chronic bacterial infection of the airways and sinuses, fat maldigestion due to pancreatic exocrine insufficiency, infertility in males due to obstructive azoospermia, and elevated concentrations of chloride in sweat (Figure 1).1 Patients with nonclassic cystic fibrosis have at least one copy of a mutant gene that confers partial function of the CFTR protein, and such patients usually have . . . [Full Text of this Article]


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