Description - Cystic Fibrosis is the most common life limiting, recessive genetic disorder in Caucasians with an incidence of 1 in 3,200 newborns in the U.S. It is less common in African and Asian Americans. The defective CF transmembrane regulator (CFTR) results in thick mucus secretions, chronic obstructive lung disease and recurrent pulmonary infections leading to cardiopulmonary failure and death. Evidence is mounting that early detection and early treatment will improve growth and slow down pulmonary deterioration.
More than 1,000 gene mutations have identified. The most common mutation usually associated with severe CF disease is DF508 (“Delta F508”). Different mutations may give rise to cases with overlapping phenotypic features. Newborn screening will not detect all forms of CF. Immunoreactive trypsinogen (IRT) testing will miss patients with pancreatic sufficiency.
It is essential to confirm or exclude the diagnosis of CF with a high degree of accuracy to avoid unnecessary testing, provide appropriate interventions, and ensure access to specialized medical services.
Clinical Features - Common signs of CF include acute or persistent respiratory problems, failure to thrive/malnutrition, steatorrhea/abnormal stools, and meconium ileus/intestinal obstruction.
Treatment - Treatment includes improving nutritional care with high calorie diets, parenteral and oral nutritional supplements and pancreatic enzymes. Improved patient outcome has been seen with aggressive airway clearance techniques and antibiotics to control pulmonary infections. A pediatric pulmonologist will recommend and monitor the treatment regime.
For More Information – Use this link to Baby’s First Test http://www.babysfirsttest.org/newborn-screening/conditions/cystic-fibrosis-cf
updated on 6/14/2013