Cystic fibrosis US Medical PG Flashcards - Medical Study Cards
Master Cystic fibrosis with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Cystic fibrosis Flashcard Deck - 10 Cards
Flashcard 1: Pseudomonas causes pneumonia and respiratory failure in _____ patients
Answer: cystic fibrosis
Flashcard 2: Neonatal abstinence syndrome presents with diarrhea, sweating, irritability, and _____ (respiratory rate)
Answer: tachypnea
Flashcard 3: Cystic fibrosis may present as _____ in newborns due to abnormally thick ("inspissated") stool
Answer: meconium ileus (10-20% of patients)
Flashcard 4: Hunter's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
+ aggressive behavior
- corneal clouding
XRiduronate sulfatase
Flashcard 5: Hurler's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-L-iduronidase
Flashcard 6: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
Flashcard 7: Williams syndrome
Answer:
Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problemshypercalcemia7q microdeletion (including elastin gene)
Flashcard 8: Prader-Willi syndrome
Answer:
Extra: mental retardation, hyperphagia, obesity, hypogonadism, hypotoniaimprinting disease; defect in the paternal genespaternal chromosome 15
Flashcard 9: X-linked recessive
Answer: yes, but only through females
Extra: many more males affectedno male-to-male transmission
Flashcard 10: cystic fibrosis (CF)
Answer:
Extra: defective Cl- channel leads to thick mucus that is difficult to clear, and promotes infectionrecurrent pulmonary infections, chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus, infertility in malesincreased [Cl-] in sweat testN-acetylcysteine, mucus clearing exerciseswhitesARCFTR
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