CYSTIC FIBROSIS

Course overview

UNTIL RELATIVELY MODERN TIMES, CYSTIC FIBROSIS WAS POORLY UNDERSTOOD. IN 1949, LOWE ET AL. POSTULATED THAT CYSTIC FIBROSIS MUST BE CAUSED BY A GENETIC DEFECT FROM THE AUTOSOMAL RECESSIVE PATTERN OF INHERITANCE OF THE DISEASE. HIGH LEVELS OF SALT IN THE SWEAT OF PATIENTS WITH CYSTIC FIBROSIS SUGGESTED AN ABNORMALITY IN ELECTROLYTE TRANSPORT FROM THE SWEAT GLAND. RESEARCHERS NOW KNOW THAT CYSTIC FIBROSIS IS AN AUTOSOMAL RECESSIVE DISORDER OF EXOCRINE GLAND FUNCTION MOST COMMONLY AFFECTING PERSONS OF NORTHERN EUROPEAN DESCENT AT A RATE OF 1:3500. IT IS A CHRONIC DISEASE THAT FREQUENTLY LEADS TO CHRONIC SINOPULMONARY INFECTIONS AND PANCREATIC INSUFFICIENCY. THE MOST COMMON CAUSE OF DEATH IS END-STAGE LUNG DISEASE. THIS ACTIVITY REVIEWS THE WORKUP OF CYSTIC FIBROSIS AND DESCRIBES THE ROLE OF HEALTH PROFESSIONALS WORKING TOGETHER TO MANAGE THIS CONDITION.