PSYCHOSOCIAL ISSUES IN CYSTIC FIBROSIS, PART 1 SUSAN HORKY, LCSW UNIVERSITY OF FLORIDA PEDIATRIC PULMONARY CENTER

WE’LL BE TALKING ABOUT: What cystic fibrosis is How families feel  At the time of diagnosis  Over time

Cystic Fibrosis is a life-shortening chronic illness... (Then scroll down)

…THAT IS GENETICALLY BASED

An abnormal gene causes problems in the transport of sodium and chloride across cell membranes Because salt can’t cross into the airway lining, water doesn’t follow, leading to thick, sticky mucus

CFTR (Cystic Fibrosis Transmembrane conductance Regulator) is a protein that creates a chloride channel Chloride flows out of the cell through the center of the channel and water follows behind it The water keeps mucus thin so it can move out of the lungs. THE GENETIC DEFECT RESULTS FROM PROBLEMS WITH CFTR

CFTR FUNCTION Non-CF CF

CATEGORIES OF DEFECT IN CFTR Class I-Nonsense gene, Insufficient CFTR made Class II-Folding problem, CFTR can’t get to cell surface Class III- Gating problem, CFTR gets to cell surface but is largely inactive Class IV-CFTR Gating problem CFTR gets to cell surface but works inadequately Class V- Trafficking problem: Not enough CFTR gets to cell surface Class VI-CFTR pulls away from surface; not enough left

Watch “Inside CFTR” and the 3D animation