CHAPTER 37

Cystic Fibrosis
CHANIN C. WRIGHT AND YOLANDA Y. VERA

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FIGURE 37-1. Mechanism of underlying elevated sodium chloride levels in the sweat of patients with cystic fibrosis. Sweat ducts (panel A) in patients with cystic fibrosis differ from those in people without the disease in the ability to reabsorb chloride before the emergence of sweat on the surface of the skin. A major pathway for Cl absorption is through CFTR, situated within luminal plasma membranes of cells lining the duct (i.e., on the apical, or mucosal, cell surface) (panel B). Diminished chloride reabsorption in the setting of continued sodium uptake leads to an elevated transepithelial potential difference across the wall of the sweat duct, and the lumen becomes more negatively charged because of a failure to reabsorb chloride (panel C). The result is that total sodium chloride flux is markedly decreased, leading to increased salt content. The thickness of the arrows corresponds to the degree of movement of ions.10 (Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352(19):1992-2001. Copyright 2005 Massachusetts Medical Society. All rights reserved.)
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FIGURE 37-2. Mechanism Extrusion of mucus secretion onto the epithelial surface of airways in cystic fibrosis. Panel A shows a schematic of the surface epithelium and supporting glandular structure of the human airway. In panel B, the submucosal glands of a patient with cystic fibrosis are filled with mucus, and mucopurulent debris overlies the airway surfaces, essentially burying the epithelium. Panel C is a higher-magnification view of a mucus plug tightly adhering to the airway surface, with arrows indicating the interface between infected and inflamed secretions and the underlying epithelium to which the secretions adhere. (Both panels B and C were stained with hematoxylin and eosin, with the colors modified to highlight structures.) Infected secretions obstruct airways and, over time, dramatically disrupt the normal architecture of the lung. In panel D, CFTR is expressed in surface epithelium and serous cells at the base of submucosal glands in a porcine lung sample, as shown by the dark staining, signifying binding by CFTR antibodies to epithelial structures (aminoethylcarbazole detection of horseradish peroxidase with hematoxylin counterstain)10. (Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352(19):1992-2001. Copyright 2005 Massachusetts Medical Society. All rights reserved.)
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FIGURE 37-1. Cystic Fibrosis Foundation Diagnosis Criteria and Clinical Presentation
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FIGURE 37-3. Classic and nonclassic cystic fibrosis. The findings in classic cystic fibrosis are shown on the left-hand side, and those of nonclassic cystic fibrosis on the right-hand side. Patients with nonclassic cystic fibrosis have better nutritional status and better overall survival. Although the lung disease is variable, patients with nonclassic cystic fibrosis usually have late-onset or more slowly progressive lung disease. Sweatgland function, as evidenced by the sweat chloride test, is abnormal but not to the extent noted in classic cystic fibrosis. Pancreatitis may occur in patients with nonclassic disease. However, chronic sinusitis and obstructive azoospermia occur in both groups of patients. On the basis of these findings, one can infer that mutations in CTFR, perhaps coupled with other genetic or environmental factors, may confer a predisposition to sinusitis, pancreatitis, or congenital bilateral absence of the vas deferens (azoospermia) in the general population.16 (Knowles MR, Durie PR. What is cystic fibrosis? N Engl J Med 2002;347(6):439442. Copyright 2002 Massachusetts Medical Society. All rights reserved.)

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FIGURE 37-3. Classic The CF diagnostic process for screened newborns.3 (Reprinted from J Pediatr, Vol. 153(2), Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for the diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report, pages S4-14, Copyright 2008, with permission from Elsevier.)

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TABLE 37-2. Cystic Fibrosis Foundation Nutritional Assessment Parameters and Recommendations

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TABLE 37-3. Pancreatic Enzyme Supplements

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TABLE 37-4. Airway Clearance Therapies

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TABLE 37-5. Airway Anti-microbial agents utilized in CF

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