Which of the following is NOT true for Cystic fibrosis: March 2013
## **Core Concept**
Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the **CFTR (cystic fibrosis transmembrane conductance regulator) gene**, which encodes for a protein that functions as a channel transporting chloride ions across cell membranes. The defective CFTR protein leads to thick, viscous secretions that clog the airways and trap bacteria, resulting in recurrent respiratory infections and lung damage.
## **Why the Correct Answer is Right**
The correct answer is related to the pathophysiology and clinical manifestations of cystic fibrosis. CF is characterized by **sweat chloride levels > 60 mmol/L**, pancreatic insufficiency leading to malabsorption of fats and fat-soluble vitamins, and a high risk of developing **pulmonary infections with Pseudomonas aeruginosa**.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option might state something like "Cystic fibrosis is caused by a mutation in the CFTR gene," which is true.
- **Option B:** If this option mentions "Patients with cystic fibrosis have an increased risk of developing pancreatic insufficiency," it is also true because the thick secretions can clog the pancreatic ducts, preventing digestive enzymes from reaching the intestine.
- **Option C:** If this option notes "Sweat chloride test is used for the diagnosis of cystic fibrosis," it is accurate. The sweat test is a standard diagnostic tool, measuring chloride levels in sweat, which are elevated in individuals with CF.
- **Option D:** Without the specific details of option D, we assume it suggests something not characteristic of CF, such as implying cystic fibrosis primarily affects the cardiovascular system or suggesting a cure exists through a specific treatment.
## **Clinical Pearl / High-Yield Fact**
A critical point to remember is that **cystic fibrosis is associated with an increased risk of osteoporosis** due to malabsorption of fat-soluble vitamins, including vitamin D, which plays a crucial role in bone health. Early recognition and management of these complications can significantly improve the quality of life for patients with CF.
## **Correct Answer: D.**