Cystic Fibrosis Pathophysiology and Treatment

These flashcards cover key vocabulary related to the pathophysiology and treatment of cystic fibrosis, including definitions of important terms, drug classes, and mechanisms.

Cystic Fibrosis

A genetic disorder that causes damage to the lungs, digestive system, and other organs, resulting in the production of thick, sticky secretions.

CFTR Protein

Cystic Fibrosis Transmembrane Conductance Regulator, a protein that functions as a chloride channel and is involved in the pathophysiology of cystic fibrosis.

Correctors

Drugs that help with the proper folding and trafficking of the CFTR protein to the cell surface, such as Lumacaftor and Tezacaftor.

Potentiators

Drugs that enhance the activity of CFTR channels already at the cell surface, with Ivacaftor being the primary example.

F508del

The most common mutation associated with cystic fibrosis, targeted by the corrector Lumacaftor.

G551D

A mutation associated with cystic fibrosis that responds to the potentiator Ivacaftor.

Carboxamide

A functional group critical in drug design for CFTR potentiators such as Ivacaftor.

Van der Waals Forces

Non-covalent interactions relevant in drug binding to proteins, influencing drug efficacy.

CYP3A

A cytochrome enzyme responsible for the metabolism of many medications including CFTR modulators.

Chloride Channel

A pathway regulated by CFTR, crucial for maintaining salt and water balance in epithelial tissues.