Cystic fibrosis: The Daily PANCE Blueprint
A 12-year-old male presents to the clinic with his parents due to reoccurring respiratory infections. He also says he has foul-smelling, oily, light-colored stools. He is underweight for his age. Which of the following is the cause of the most likely diagnosis?
A. Mutation of CFTR gene
B. Lack of alpha-1 antitrypsin
c. Defective adenosine deaminase
D. Immune respone to gliadin
E. Antibodies against proteinase-3
Answer and topic summary
The answer is A. Mutation of CFTR gene
Cystic fibrosis is an autosomal recessive genetic disorder caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The most common mutation is F508. Without functional copies of the CFTR protein, epithelial cells cannot adequately pump water into mucus/other products -> leading to thick/sticky secretions that obstruct various organs. Clinical features include failure to thrive, recurrent respiratory infections, abdominal pain, meconium ileus, pancreatitis, and infertility. The initial test is a sweat chloride test; followed by genetic testing. Management includes optimization of nutritional and respiratory status; including but not limited to bronchodilators, mucolytics, CPT, pancreatic enzymes, oxygen, and CFTR modulators (Trikafta). The most common cause of death in these patients is lung disease.
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Smarty PANCE Content Blueprint Review:
Covered under ⇒ PANCE Blueprint Pulmonary ⇒ ⇒
Also covered as part of the Pediatric EOR topic list
