A 19-year-old man with chronic productive cough, recurrent sinusitis, and otitis media since childhood presents with dyspnea. Vital signs: BP 118/76, HR 88, RR 22, Temp 37.2°C, SpO2 94% on room air. Physical examination reveals dextrocardia and decreased breath sounds bilaterally; no clubbing noted. Chest X-ray shows bronchiectasis. Semen analysis demonstrates immotile sperm. He takes albuterol as needed but has never used inhaled corticosteroids. Which of the following is the most likely molecular defect?
- A)NADPH oxidase deficiency
- B)Alpha 1 antitrypsin deficiency
- C)Elastin gene mutation
- D)Defective dynein arms in ciliaGABARITO
- E)CFTR chloride channel misfolding
Explicação
Primary ciliary dyskinesia is caused by defective dynein arms, producing impaired ciliary motility. The classic triad of recurrent sinusitis, bronchiectasis, and situs inversus is Kartagener syndrome, and male infertility occurs because sperm flagella share th... Ver explicação completa e trilha adaptativa →