Biofilms in cystic fibrosis — MCQs

A 4-year-old boy is brought by his parents to his pediatrician’s office. His mother mentions that the child has been producing an increased number of foul stools recently. His mother says that over the past year, he has had 1 or 2 foul-smelling stools per month. Lately, however, the stools are looser, more frequent, and have a distinct odor. Over the past several years, he has been admitted 4 times with episodes of pneumonia. Genetic studies reveal a mutation on a specific chromosome that has led to a 3 base-pair deletion for the amino acid phenylalanine. Which of the following chromosomes is the defective gene responsible for this boy’s clinical condition?

A 20-year-old woman presents for a follow-up visit with her physician. She has a history of cystic fibrosis and is currently under treatment. She has recently been struggling with recurrent bouts of cough and foul-smelling, mucopurulent sputum over the past year. Each episode lasts for about a week or so and then subsides. She does not have a fever or chills during these episodes. She has been hospitalized several times for pneumonia as a child and continues to struggle with diarrhea. Physically she appears to be underweight and in distress. Auscultation reveals reduced breath sounds on the lower lung fields with prominent rhonchi. Which of the following infectious agents is most likely associated with the recurrent symptoms this patient is experiencing?

A 55-year-old woman comes to the physician with a 6-month history of cough and dyspnea. She has smoked 1 pack of cigarettes daily for the past 30 years. Analysis of the sputum sample from bronchoalveolar lavage shows abnormal amounts of an isoform of elastase that is normally inhibited by alpha-1 antitrypsin. The cell responsible for secreting this elastase is most likely also responsible for which of the following functions?

A 14-year-old girl is brought to the emergency department because of a 3-day history of worsening confusion, high-grade fever, and a productive cough. She has had recurrent respiratory infections and bulky, foul-smelling, oily stools since infancy. She is at the 14th percentile for height and 8th percentile for weight. Despite appropriate care, the patient dies 2 days after admission. Autopsy of the lungs shows bronchial mucus plugging and bronchiectasis. Which of the following is the most likely underlying cause of this patient's condition?

A 51-year-old man with alcohol use disorder comes to the physician because of a fever and productive cough. An x-ray of the chest shows a right lower lobe consolidation and a diagnosis of aspiration pneumonia is made. The physician prescribes a drug that blocks peptide transfer by binding to the 50S ribosomal subunit. Which of the following drugs was most likely prescribed?

An 11-year-old boy who recently emigrated from Ukraine is brought to the physician for the evaluation of failure to thrive. Genetic analysis shows the deletion of the 508th codon in a gene on chromosome 7. The deletion results in defective post-translational folding of a protein and retention of the misfolded protein in the rough endoplasmic reticulum. The activity of which of the following channels is most likely to be increased as a result of the defect?

A 9-year-old boy with cystic fibrosis (CF) presents to the clinic with fever, increased sputum production, and cough. The vital signs include: temperature 38.0°C (100.4°F), blood pressure 126/74 mm Hg, heart rate 103/min, and respiratory rate 22/min. His physical examination is significant for short stature, thin body frame, decreased breath sounds bilateral, and a 2/6 holosystolic murmur heard best on the upper right sternal border. His pulmonary function tests are at his baseline, and his sputum cultures reveal Pseudomonas aeruginosa. What is the best treatment option for this patient?

A 7-year-old boy with a history of cystic fibrosis is brought to the physician for evaluation of recurrent episodes of productive cough, wheezing, and shortness of breath over the past month. Physical examination shows coarse crackles and expiratory wheezing over both lung fields. Serum studies show elevated levels of IgE and eosinophilia. A CT scan of the lungs shows centrally dilated bronchi with thickened walls and peripheral airspace consolidation. Antibiotic therapy is initiated. One week later, the patient continues to show deterioration in lung function. A sputum culture is most likely to grow which of the following?

What is the chance of a child having cystic fibrosis if both parents are carriers of the disease?

An 8-year-old girl is brought to the pediatrician because she is significantly shorter than her classmates. Her mother notes that she has had thick, oral secretions for the past several months, along with a chronic cough. Her exam is notable for clubbed fingernails. Her pediatrician sends a genetic test for a transmembrane channel mutation, which shows a normal DNA sequence, except for the deletion of three nucleotides that code for a phenylalanine at position 508. What type of mutation has caused her presentation?