Cystic Fibrosis

Cystic fibrosis (CF) is a relatively common autosomal recessive condition that causes progressive lung disease and exocrine pancreatic insufficiency. CF affects approximately 1 in 3200 U.S. Caucasians but is less common in other population groups. CF results from inheriting two mutated copies of the CTFR gene, which is known to play a role in regulating chloride transport across epithelial membranes. More than 1000 CFTR mutations have been described, but the AF508 mutation accounts for the great majority of classic CF cases.

The diagnosis of CF in symptomatic individuals can be made by the chloride sweat test, transepithelial nasal potential difference measurement, or genetic testing for CFTR mutations. Once almost universally fatal in adolescence or early adulthood, improved management has resulted in more CF patients surviving well into adulthood. Patient management in specialized CF centers is common, although it is unclear to what extent management by a specialized center is associated with improved patient outcomes. Lung transplantation has been used as a "cure" for the pulmonary complications of CF.

All women should be offered CF carrier screening as part of prenatal or preconception care to determine risk, so that reproductive planning is an option (ACOG, 2005). It is important to recognize that the common panels offered for prenatal CF screening contain tests for a variety of CF mutations but perform less well in certain ethnic groups. This lowered sensitivity results in residual risk of having an infant with CF despite a negative screening test in certain population groups.

Several U.S. states include CF in their newborn screening programs, and some evidence suggests that screening

The complete reference list is available online at

Excellent and up-to-date basic resource for genetics and health, including glossary.

National Library of Medicine; detailed information on many genetic diseases, a genetics services searchable database, a list of laboratories performing specific genetic tests, and illustrated glossary linked to text.

National Library of Medicine Online Mendelian Inheritance in Man; compendium of information on most genetic diseases, but may have more information than most nongeneticists need.

National Human Genome Research Institute; useful resources for patients and patient care, including links to family history tools and guidelines, the Genetics and Rare Disease website (genetics help desk), National Cancer Institute's cancer PDQ, and genetic professional locators.

is associated with improved outcomes (Grosse et al., 2006; Southern et al., 2009). Newborn screening for CF illustrates some important dilemmas. As a result of this screening, we now know that many patients with nonclassic CFTR mutations have only mild disease, such as congenital absence of the vas deferens or chronic sinus infections. Does diagnosis before the onset of symptoms improve outcomes for these individuals? What about the risks of informing parents of a serious disease in their apparently normal newborn—will it change parenting and child development? The answers to these questions are under investigation, but they are important factors to consider when assessing risks and benefits of early CF detection.

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