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Bone mineral density
59%
10/17
Expression of the autosomal dominant deletion of CFTR gene
12%
2/17
Nasal polyps
6%
1/17
Hypoglycemia
18%
3/17
A lack of respiratory infections
0%
0/17
Select Answer to see Preferred Response
This patient’s elevated sweat chloride test and significant family history suggests cystic fibrosis (CF). Malabsorption is very common in CF patients due to pancreatic gland atrophy secondary to viscous secretions impairing pancreatic exocrine release. Impaired fat-soluble vitamin absorption, such as vitamin D, would decrease bone mineral density. Thus, PERT would improve vitamin D absorption and bone mineral density. CF is an autosomal recessive defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. This is commonly due to a deletion of phenylalanine-508. In secretions other than the sweat gland, defects in this transporter protein dehydrates secretions, making them viscous/thickened in areas such as the pancreatic ducts. This progresses to pancreatic tissue destruction via exocrine gland atrophy and fibrosis, leading to malabsorption of nutrients, such as fat, therefore fat soluble vitamins like A, D, E, K, and CF-related diabetes. PERT is used to replace the enzymes lost in patients with pancreatic insufficiency, an important contributor to malnutrition in CF patients. Incorrect Answers: Answer 2: CF is an autosomal recessive disease. Answer 3: Nasal polyps are seen in 10 – 32% of CF patients. This is not the reason why this patient is on PERT. Answer 4: Pancreatic insufficiency in CF leads to CF-related diabetes; therefore, hypoglycemia is not expected. Answer 5: CF patients have recurrent sinopulmonary infections. Pseudomonas aeruginosa is the most common pathogen.
4.1
(9)
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