Cystic fibrosis

Question 1

cystic fibrosis

Answer 1

• most common genetic disorder in caucasians
• multisystem disorder affecting primarily the pulm and gi tract
• life expectancy in early 40s

Question 2

CF inheritance

Answer 2

autosomal recessive. carriers are generally healthy

Question 3

etiology of CF

Answer 3

cystic fibrosis transmembrance conductance regulator gene (CFTR). protein is a chloride channel at the cell membrane. also aids sodium absorption regulation, therefore affecting water balance of the cell. mutations change the structure of a protein or the proteins ability to reach the cell surface and function. diminished water at cell surface produces thick, sticky mucus.

Question 4

CF manifestations

Answer 4

obstructive lung disease, chronic infection, brochiectasis, chronic sinusitis, nasal polyposis, liver disease, bowel obstruction, malnutrition, pancreatic insufficiency, diabetes, high cl in sweat

Question 5

pulmonary disease of cf

Answer 5

persistent cough, wheezing, bacterial infections, pneumonia, bronchiectasis

Question 6

pancreatic insuff/malabsorption of cf

Answer 6

meconium ileus, rectal prolapse, loose, foul smelling stools, excessive appetite along with poor weight, smaller than average height and weight gain, nutritional deficiencies, bowel obstruction

Question 7

Salt loss syndromes cf

Answer 7

salty-tasting skin, chronic metabolic alkalosis, susceptibility to dehydration

Question 8

other symptoms of cf

Answer 8

sinusitis, nasal polyps, male infertility, cf related diabetes, pancreatitis, liver disease, clubbed fingers

Question 9

onset of cf symptoms

Answer 9

variable age, historically most dx by 4. common presenting symptoms respiratory infections, failure to thrive, loose stools, meconium ileus. malnutrition often by 2 months in typical cf.

Question 10

diagnosing cf

Answer 10

Sweat test=gold standard. elevated chloride is diagnostic. positive is >60 mmol/L negative is