Mild Cystic Fibrosis in a Consanguineous Family
Authors: Michael R. Knowles, Thomas B. Barnett, Allyn McConkie-Rosell, Charles Sawyer, Stephen G. Kahler
Journal: Annals of Internal Medicine (1989)

Articles15 April 1989Mild Cystic Fibrosis in a Consanguineous FamilyMichael R. Knowles, MD, Thomas B. Barnett, MD, Allyn McConkie-Rosell, MSW, Charles Sawyer, MD, Stephen G. Kahler, MDMichael R. Knowles, MDSearch for more papers by this author, Thomas B. Barnett, MDSearch for more papers by this author, Allyn McConkie-Rosell, MSWSearch for more papers by this author, Charles Sawyer, MDSearch for more papers by this author, Stephen G. Kahler, MDSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-110-8-599 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptCystic fibrosis is an autosomal recessive genetic disorder linked to chromosome 7q in all families studied. Expression of the disease varies, but the genetic basis for clinical heterogeneity is unknown. We describe an extended consanguineous family with pulmonary disease and the sweat gland phenotype of cystic fibrosis. In the members of this family, clinical expression of the disease was mild, as manifested by the absence of severe childhood lung disease and increased longevity with better functional status than that expected for age. The degree of pancreatic exocrine insufficiency varied (4/10), but the older patients had normal pancreatic function. The pedigree...References1. Beaudet A, Bowcock A, and Buchwald M. Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet. 1986;39:681-93. MedlineGoogle Scholar2. Lathrop G, Farrall M, and O'Connell P. Refined linkage map of chromosome 7 in the region of cystic fibrosis. Am J Hum Genet. 1988;42:38-44. MedlineGoogle Scholar3. Wood R, Boat T, and Doershuk C. Cystic fibrosis. Am Rev Respir Dis. 1976;113:833-78. MedlineGoogle Scholar4. 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Speer, MS, Margaret A. Pericak-Vance, PhD, Jia-Huan Ding, MD, PhD, W. Edward Highsmith Jr., PhD, Michael Knowles, MD, Stephen G. Kahler, MD 15 April 1989Volume 110, Issue 8Page: 599-605KeywordsClinical geneticsCystic fibrosisGenetic diseasesMedical servicesPediatricsPhenotypesPulmonary diseasesPulmonary functionSweatSweat glands ePublished: 1 December 2008 Issue Published: 15 April 1989 Copyright & Permissions©1989 American College of PhysiciansPDF downloadLoading ...