Michael R. Knowles, MD; Thomas B. Barnett, MD; Allyn McConkie-Rosell, MSW; Charles Sawyer, MD; Stephen G. Kahler, MD
Cystic 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
Knowles MR, Barnett TB, McConkie-Rosell A, Sawyer C, Kahler SG. Mild Cystic Fibrosis in a Consanguineous Family. Ann Intern Med. ;110:599–605. doi: 10.7326/0003-4819-110-8-599
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Published: Ann Intern Med. 1989;110(8):599-605.
Gastroenterology/Hepatology, Pancreatic Disease, Pulmonary/Critical Care.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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