A 6-year-old boy presents with failure to thrive, recurrent sinopulmonary infections, and bulky, foul-smelling stools despite adequate caloric intake. Vital signs show HR 110/min, RR 28/min, SpO2 92% on room air, and temperature 37.2°C. Chest X-ray reveals hyperinflation with bronchial wall thickening. Fecal fat is elevated at 8 g/day. He denies recent antibiotic use. Genetic analysis confirms the most common cystic fibrosis mutation. Which molecular defect does this mutation cause?
- A)Defective receptor tyrosine kinase signaling
- B)Misfolding with impaired protein trafficking to the cell surfaceGABARITO
- C)Reduced synthesis of surfactant phospholipids
- D)Premature truncation of a mitochondrial membrane protein
- E)Abnormal collagen cross linking in the extracellular matrix
Explicação
Misfolding with impaired protein trafficking to the cell surface is correct. The most common cystic fibrosis mutation is delta F508, a deletion that causes CFTR misfolding and degradation before it reaches the apical membrane. Loss of chloride transport leads ... Ver explicação completa e trilha adaptativa →