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Mild Cystic Fibrosis in a Consanguineous Family

Michael R. Knowles, MD; Thomas B. Barnett, MD; Allyn McConkie-Rosell, MSW; Charles Sawyer, MD; and Stephen G. Kahler, MD
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Grant Support: Partial support by grant CFRDP ROO1 7-5 from the Cystic Fibrosis Foundation and by grant M01-RR46 from the U. S. Public Health Service to the University of North Carolina Clinical Research Unit and the Bonner Fund. Dr. Barnett is a Bonner Professor of Medicine.

Requests for Reprints: Thomas B. Barnett, MD, University of North Carolina School of Medicine, CB #7020, 724 Burnett-Womack Building, University of North Carolina, Chapel Hill, NC 27599-7020.

Current Author Addresses: Drs. Barnett and Knowles: Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC 27599.

Dr. Kahler and Mr. McConkie-Rosell, Department of Pediatrics, Genetics, and Metabolism, Durham, NC 27710.

Dr. Sawyer: Ahoskie Family Physicians, P. A., Medical Arts Center, Ahoskie, NC 27910.


©1989 American College of PhysiciansAmerican College of Physicians


Ann Intern Med. 1989;110(8):599-605. doi:10.7326/0003-4819-110-8-599
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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

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