Mild Cystic Fibrosis in a Consanguineous Family

doi:10.1059/0003-4819-110-8-599

Mild Cystic Fibrosis in a Consanguineous Family

Excerpt

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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Acknowledgments

Acknowledgments: The authors thank Gerald Strope, MD, Polly Johnson, RN, Deborah Timmons, MD, and Nancy Callanan, MS, of the University of North Carolina School of Medicine, for assistance in the performance of pulmonary function and sweat chloride tests, and in the construction of the pedigree; and Drs. Al Spock and Marilyn Gowen for information about their patients.

Article and Author Information

From the University of North Carolina School of Medicine, Chapel Hill, and Duke University Medical Center, Durham, North Carolina. For current author addresses, see end of text.
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.