Pathophysiology
Cystic Fibrosis is caused by a genetic mutation on chromosome 7. What is the specific name of this mutated gene?
The CFTR Gene
When assessing the fingers of an adolescent with chronic, long-term hypoxia from CF, the nurse notes the angle of the nail bed is greater than 180 degrees, making the fingertips look bulbous. What is the medical term for this physical assessment sign?
What is Digital Clubbing
In 1989, a massive historical breakthrough occurred when researchers successfully isolated and mapped the specific genetic mutation responsible for CF. On which numbered human chromosome did they find it?
What is Chromosome 7
A student nurse charts: "Administered Pancrelipase capsule to the patient at 1300. Patient's lunch tray arrived later at 1430." based off the charting what did the nurse do wrong?
The timing is wrong. Pancrelipase must be given with or immediately before meals, not 90 minutes prior.
To thin out the thick, concrete-like mucus in a patient's lungs before physical therapy, the nurse administers an inhaled mucolytic. What specific piece of respiratory equipment is used to turn this liquid medication into a breathable mist?
What is a Nebulizer?
Because the cellular chloride channels are broken, water cannot leave the cells to lubricate the tissue. This directly causes what physical change to the secretions in the lungs and pancreas?
They become thick, dehydrated, and viscous mucus plugs.
A newborn baby with CF fails to pass their very first stool within the first 24 to 48 hours of life because it is too thick, sticky, and completely impacted in the intestines. What is the medical term for this specific pediatric emergency?
What is Meconium Ileus?
French pop star Grégory Lemarchal won a national television title while battling CF, before passing away in 2007 at age 23. What was the name of his famous, operatic breakout song video played earlier?
What is "S.O.S. d'un terrien en détresse"?
A nurse charts the following respiratory assessment: "Patient has fine, musical, high-pitched whistling sounds throughout the upper lobes upon expiration, documented as coarse crackles." What is the terminology error?
High-pitched, musical whistling sounds are Wheezes, not coarse crackles.
The nurse is setting up a diagnostic station for a child suspected of having CF. What specific diagnostic test/kit relies on topically applied pilocarpine and a mild electrical current to collect an electrolyte sample?
What is The Sweat Chloride Test (Pilocarpine Iontophoresis kit)?
Two healthy, asymptomatic parents find out they are both genetic carriers (heterozygous) for CF. What is the exact percentage chance that their next biological child will actually inherit the disease?
What is a 25% chance? (or 1 in 4 chance)
Because CF patients lose massive, dangerous amounts of sodium chloride through their sweat glands, a pediatric nurse must teach parents to actively increase their child's salt intake during what specific types of weather or lifestyle events?
What is hot weather, summer months, or heavy exercise/sweating?
This English singer-songwriter recorded her entire debut album Daydreams while her lung capacity was severely failing, tragically passing away in 2003 at age 30 while on the lung transplant waiting list. Who was she?
Who is Alice Martineau?
A chart note reads: "Encouraged mother to limit dietary fats and keep patient on a strict low-calorie diet to prevent digestive upset." Why is this instruction incorrect for a child with CF?
CF patients require a High-Calorie, High-Fat diet to counteract severe malabsorption.
To loosen stubborn mucus plugs, a pediatric patient wears a high-frequency chest wall oscillation device that sends rhythmic air pulses to compress the chest. What do families and nurses commonly call this wearable piece of equipment?
What is The Vest (or CPT Vest)?
When thick mucus completely blocks the exocrine ducts of the pancreas, it prevents three vital digestive enzymes from reaching the duodenum. Name these three enzymes.
What are Lipase, Amylase, and Protease?
If a pediatric nurse needs to objectively evaluate a child's long-term medication compliance and track their overall lung function trends over the past year, what type of diagnostic breathing test measures forced expiratory volume (FEV1)?
What are Pulmonary Function Tests (PFTs / Spirometry)
In 1938, this famous American pathologist became the first medical professional to comprehensively describe and name "cystic fibrosis of the pancreas" after distinguishing it from celiac disease during autopsies. Who was she?
Dr. Dorothy Andersen?
A nurse notes in the electronic health record: "Scheduled Chest Physiotherapy (CPT) vest session for 1230 to maximize patient rest directly following their 1200 lunch." What is the patient safety error?
CPT should never be done directly after a meal due to the high risk of inducing vomiting and pulmonary aspiration.
Due to the extreme risk of cross-contamination with treatment-resistant bacteria like Burkholderia cepacia, what strict isolation rule must be enforced regarding CF patients sharing physical clinic spaces or medical equipment?
What is Strict 6-foot isolation from other CF patients? (They cannot share hospital rooms or toys).
Due to the blockage of pancreatic enzymes, fat cannot be broken down or absorbed. What is the medical term for these bulky, greasy, floating, foul-smelling stools?
What is Steatorrhea?
What is the name of the modern, life-saving breakthrough class of medications (such as Trikafta) that actually fixes the microscopic cellular folding shape of the defective CFTR protein itself, rather than just treating the symptoms?
What are CFTR Modulators?
Historically, before modern diagnostics existed, what ancient European folklore saying warned mothers that their baby was doomed, based entirely on a sensory observation during a kiss?
"Woe to the child who tastes salty from a kiss on the brow, for he is bewitched and soon must die."?
A nurse charts: "Discharged pediatric patient with instructions to take their prescribed fat-soluble vitamins (A, D, E, K) on an empty stomach with a large glass of water." What is the pharmacological error?
Fat-soluble vitamins must be taken with fat-containing foods to be absorbed properly by a patient with pancreatic insufficiency.
A toddler with CF is admitted with severe malabsorption and failure to thrive. The provider decides to bypass oral feeding to deliver long-term, high-calorie nutrition directly into the stomach. What specific surgical supply device will be placed in the abdomen?
What is a G-Tube