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Chapter 47. Cystic Fibrosis

KT is a 13-year-old with cystic fibrosis (CF) who based on genetic mutations is indicated for Elexacaftor/Tezacaftor/Ivacaftor (Trikafta), Lumacaftor/Ivacaftor (Orkambi), and Tezacaftor/Ivacaftor (Symdeko). Which product(s) is/are considered a highly effective modulator therapy (HEMT)? Select all that apply.

a. Trikafta

b. Symdeko

c. Orkambi

d. Kalydeco

Answers a and d are correct. Ivacaftor (Kalydeco) and Elexacaftor/Tezacaftor/Ivacaftor (Trikafta) are considered HEMT as they have demonstrated a high magnitude of treatment benefit. HEMT have also been referred to as cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies. CFTRs are designed to correct the malfunctioning protein made by the CFTR gene. Until recently, medical therapies were unable to target the underlying genetic cause of CF and could only address symptoms. For example, airway clearance therapies are used daily to dislodge airway mucus, pancreatic enzyme replacement is taken with each meal to help digest food, and antibiotics are used to treat lung infections. Therefore, extensive research has focused on developing agents that can affect CF at the genetic level. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations. The CFTR protein regulates the proper flow of water and chloride in and out of cells lining the lungs and other organs. In people with CF, mutations in the CFTR gene result in either a defective protein being produced or no protein at all. This leads to the buildup of thick, sticky mucus, which can lead to infections in the lungs and damage to the pancreas. It can also lead to problems in other parts of the body. The effects of CFTR modulators only last for as long as the medication is in your system.

Answers b and c are incorrect. The others modulators available, Lumacaftor/Ivacaftor (Orkambi) and Tezacaftor/Ivacaftor (Symdeko), are not HEMT.

Which vitamins should be supplemented in patients with cystic fibrosis (CF)?

a. Vitamins A, B, C, D

b. Vitamins B, C, D, E

c. Vitamins A, D, E, K

d. Vitamins B, C, E, K

Answer c is correct. Fat-soluble vitamin (ie, A, D, E, K) supplementation is recommended for all individuals with CF shortly after diagnosis. About 90% of patients with CF have pancreatic insufficiency (PI) and are at risk for fat malabsorption and fat-soluble vitamin deficiency. Each fat-soluble vitamin has multiple and essential metabolic functions for human health. Vitamin A is essential for normal vision, epithelial cell integrity, epithelial proliferation, and immunity. Vitamin ...

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