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Am J Nurs. 2014 Jun;114(6):36-43; quiz 44-5. doi: 10.1097/01.NAJ.0000450425.66889.7e.

Genomic breakthroughs in the diagnosis and treatment of cystic fibrosis.

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1
Stephanie J. Nakano is a staff nurse in the Department of Nursing and Patient Services and works in the pediatric ICU of American Family Children's Hospital, Madison, WI. Audrey Tluczek is an associate professor at the University of Wisconsin-Madison School of Nursing. Contact author: Audrey Tluczek, atluczek@wisc.edu. The authors and planners have disclosed no potential conflicts of interest, financial or otherwise.

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder that was long considered a terminal illness. Recent genetic discoveries and genomic innovations, however, have transformed the diagnosis, classification, and treatment of this multisystem condition. For affected patients, these breakthroughs offer hope for significantly greater longevity and quality of life and, perhaps, for a future cure. This article reviews empirical research on CF, filling a critical gap in the nursing literature regarding recent findings in the study of CF genetics and their implications for patient teaching, diagnosis, and treatment.

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