When he was a third-year medical student at University of Wisconsin, Christopher Harris, M.D., FAAP, cared for a young man with advanced cystic fibrosis (CF) lung disease.
“It was very instructive for me taking care of somebody only slightly younger than me who had a lot on his plate due to his advanced lung disease, and his attitude about life was instructive to me with regard to what was important,” Dr. Harris recalls.
Dr. Harris now is director of pediatric pulmonary medicine in the Department of Pediatrics at Cedars-Sinai Medical Center in Los Angeles. Management of cystic fibrosis has changed since his medical school days, including the development of new treatments targeted to specific genetic mutations.
Dr. Harris will discuss advances in the understanding of the biological causes of the lung disease as well as new treatments during a session titled “Cystic Fibrosis: Is a Cure in Sight? (F1109)” from 2-2:45 p.m. Saturday in Room 304 of Moscone South.
Cystic fibrosis affects about one in 3,000 Caucasians, making it the most common lethal genetic disease in that population. It occurs less frequently in Hispanics and blacks, and is extremely rare in Asians.
“They (pediatricians) may not have many patients, but they may have a few, and I think it’s important to know how to work with the pediatric subspecialist in the care of the patient with cystic fibrosis,” said Dr. Harris, a member of the AAP Section on Pediatric Pulmonology and Sleep Medicine.
Every state and the District of Columbia screen newborns for cystic fibrosis. However, some patients with a mild form of the disease will not be diagnosed in the newborn period.
“So pediatricians still need to be on the lookout for patients who develop common symptoms of CF in the first couple years of life,” said Dr. Harris, who will review the clinical manifestations of disease.
He also will spend some time talking about genetics because cystic fibrosis is one of the diseases for which personalized medicine is evolving. There now are more than 2,000 mutations found in the cystic fibrosis gene.
“Some of the newer therapies that have come down the pike in the recent past are for specific mutations that occur in the cystic fibrosis gene,” Dr. Harris said.
Dr. Harris also will present “When Mucus Doesn't Move: What Can the Practitioner Do? (F1186)” from 5-5:45 p.m. Saturday in Room 3024 of Moscone West. Attendees will learn the clinical features that suggest a diagnosis of primary ciliary dyskinesia and how to perform screening tests in the office.
For more coverage of the AAP National Conference & Exhibition visit http://www.aappublications.org/collection/cme