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VIII.31 - Cystic Fibrosis

from Part VIII - Major Human Diseases Past and Present

Published online by Cambridge University Press:  28 March 2008

Kenneth F. Kiple
Affiliation:
Bowling Green State University, Ohio
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Summary

Cystic fibrosis, also called fibrocystic disease of the pancreas, and mucoviscidosis, is a genetically determined disease of infants, children, and young adults. Most of its many manifestations result from the abnormally viscous mucus, which interferes with pulmonary function, and the insufficient production of pancreatic digestive enzymes, which causes nutritional deficiencies and developmental retardation.

Etiology

Among Caucasians, cystic fibrosis (CF) is the most common fatal disease having an autosomal recessive inheritance. Despite the primary involvement of several organs, the disease is caused by a single defective gene that is located on chromosome 7 and is carried by about 4 percent of the Caucasian population. Its expression is similar in both sexes.

Clinical Manifestations

CF manifests itself at birth in about 8 percent of cases through mechanical obstruction of the small intestine by the secretion of abnormally viscous mucus (meconium ileus). Symptoms of insufficient secretion of exocrine (noninsulin) digestive enzymes by the pancreas appear during the first year of life in 90 percent of cases. The development of such symptoms indicates that pancreatic function is less than 10 percent of normal; and the more severe the deficiency of pancreatic enzymes, the more severe the fecal excretion of undigested fat, usually as diarrhea. As much as 80 percent of dietary fat may be lost, thus partially explaining malnutrition. Loss of undigested nutrients can be corrected only partially by treatment with pancreatic enzyme tablets. Pulmonary disease is responsible for most of the debility and mortality. Onset occurs in the first 2 years of life in at least 75 percent of cases, and by the age of 6 years in most of the remaining cases.

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Publisher: Cambridge University Press
Print publication year: 1993

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References

Andersen, D. H. 1938. Cystic fibrosis of the pancreas and its relation to celiac disease: A clinical and pathological study. American Journal of Diseases of Childhood 56.CrossRefGoogle Scholar
Boat, T. F., Welsh, M. J., and Beaudet, A. L.. 1989. Cystic fibrosis. In The metabolic basis of inherited disease, 6th edition, ed. Scriver, C. R., et al., 2649–80. New York.Google Scholar
Dean, M., et al. 1990. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61.CrossRefGoogle ScholarPubMed
Denning, C. R., Sommers, S. C., and Quigley, H. R.. 1968. Infertility in male patients with cystic fibrosis. Pediatrics 41.Google ScholarPubMed
Fanconi, G., Uehlinger, E., and Knauer, C.. 1936. The coeliac syndrome in congenital cystic fibrosis of the pancreas and bronchiectasis. Wiener Medizinische Wochenschrift 86.Google Scholar
Gaskin, K., et al. 1982. Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption. Journal of Pediatrics 100.CrossRefGoogle ScholarPubMed
Kerem, B., et al. 1989. Identification of the cystic fibrosis gene: Genetic analysis. Science 45.Google Scholar
Klinger, K. W. 1983. Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect. Human Genetics 68.Google Scholar
Kulczycki, L., and Schauf, V.. 1974. Cystic fibrosis in blacks in Washington, D.C.: Incidence and characteristics. American Journal of Diseases of Childhood 127.CrossRefGoogle ScholarPubMed
Sant’Agnese, P. A. di, Darling, R. C., and Perea, G. A.. 1953. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Pediatrics 12.Google Scholar
Sant’Agnese, P. A. di, and Davis, P. B.. 1979. Cystic fibrosis in adults. American Journal of Medicine 66.Google ScholarPubMed
Selander, P. 1965. The frequency of cystic fibrosis of the pancreas in Sweden. Ada Paediatrica Scandinavica 51.Google Scholar
Wright, S. W., and Morton, N. E.. 1968. Genetic studies on cystic fibrosis in Hawaii. American Journal of Human Genetics 10.Google Scholar

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  • Cystic Fibrosis
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.093
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  • Cystic Fibrosis
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.093
Available formats
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Save book to Google Drive

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  • Cystic Fibrosis
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.093
Available formats
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