Cystic Fibrosis- Exam Questions and Answers Latest Update 2025 (Fully Solved)

Cystic Fibrosis- Exam Questions and Answers Latest Update 2025 (Fully Solved) What is cystic fibrosis? - Answers an inherited autosomal recessive, chronic, progressive and frequently fatal disease of the exocrine glands What glands does the disease cystic fibrosis effect? - Answers exocrine What is one of the most common genetic disease diagnosed in childhood? - Answers cystic fibrosis milder forms of this disease may not be diagnosed until age 40? - Answers cystic firbosis Cystic fibrosis is most common in who? - Answers Caucasians Cystic fibrosis is very common in which religion? - Answers amish Does cystic fibrosis occur equally in males or females? - Answers yes The median survival age of an individual with cystic fibrosis is what? - Answers 37 years Clients 18 years or older now constitute what percentage of the US opulation living with CF? - Answers 45% CF disease, is inherited, but unlike sickle cell which is homogenous, cystic is.. - Answers heterogenous The seveirty of disease in specific organs varies considerable between patients with cF - Answers yes The gene responsible for CF is what? - Answers F508 deletion, approx 70 percent of cases F508 deleation results in a mutation in cystic fibrosis transmembrane conductance regulator, meaning that it is the (what) gene responsible for CF? almost 600 additional mutations have been noted - Answers Only gene Cystic fibrosis is a what? - Answers recessive genetic multi-system disease What percentage of CF patients die of chronic infection of the airways? (bronchiectasis) - Answers 90 percent What percentage of CF patients have pancreatic exocrine insufficiency? - Answers 90 percent What percentage of males with CF are infertile? why? - Answers 99 percent, obstruction of the vas deferens What percentage of CF patients have meconium ileus (obstruction) at birth? - Answers 20 percent How many CF patients develop end stage liver fibrosis? (biliarycirrhosis) - Answers 5-7% The primary lung defense mechanism is what? - Answers mucous transport What fails in CF? - Answers mucous transport in the lungs What is key to normal mucus clearance, and also the key to the pathogenesis of a lung in a patient with CF? - Answers airway surface liquid (ASL) volume What are some potential resp complications of cystic fibrosis? (6) - Answers Sinusitis/nasal polyps/clubbing/pneumothorax/hemoptysis/pulmonary htn What are some CV complications of cystic fibrosis? (1) - Answers cor pulmonale (enlargement of the right side of the hearT) What are some GI complications of CF? - Answers abd pain and discomfort, gassiness/rectal prolapse/gallstones/intussuception (age great than 4), malnutrition abd pain and discomfort, gassiness/rectal prolapse/gallstones/intussuception (age great than 4), malnutrition are all abdominal complications of what? - Answers CF what are some hepatic complications of CF? - Answers biliary cirrhosis (due to enzyme CFTR)/hepatobiliary disease what are some endocrine complications of CF? - Answers diabetes How can we screen for CF? - Answers serum immunoreactive trypsinogen test in newborns the IRT (immunoreactive trypsonogen test) is used in which population? what does it detect? - Answers newborns, elevation in serum levels of immunoreactive trypsin How can the serum be IRT tested in suspected newborn CF? - Answers a dried blood sample The IRT has a (what) success rate? - Answers 95 The IRT must be done before what age? - Answers 8 weeks In a neonate, we test for what and what? why? - Answers IRT in a blood spot and DNA analysis. Earlier recognition and treatment to prevent malnutrition The gold standard in detecting cystic fibrosis is what? - Answers sweat chloride test In a sweat chloride test, what is considered positive? - Answers 60mEq/L is positive for CF Why is the sweat chloride test difficult to take on newborns and small children? - Answers difficult to obtain sweat from them Approximately what percentage of patients with CF will have normal sweat chloride levels? - Answers 1-2% If a suspected CF client does not test positive in the sweat chloride test, what other tests can help us dx? (3) - Answers molecular direct mutation analysis, nasal potential difference measurements, sperm count of 0 in active male Most CF patients are diagnoised in childhood, approx what percentage are dx'd by age 2? - Answers 70 percent Why does the sweat chloride test work? - Answers CF causes a large amount of salt to be lost in sweat Before doing a sweat chloride test, we need to ensure that the patient is (2).. - Answers clinically stable and well hydrated, no corticosteroids a positive result for sweat chloride test is what? A normal result is what? - Answers great than 60 =CF, less than 40 is normal how does the nasal potential difference measurement work? - Answers active transport