Mucoviscidosis is most commonly related to ?
**Core Concept**
Mucoviscidosis, also known as cystic fibrosis, is a genetic disorder characterized by the production of thick, sticky mucus that affects various organs, particularly the lungs and pancreas. This condition is caused by mutations in the CFTR gene, which codes for a chloride channel responsible for regulating the balance of salt and water in epithelial cells.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiological mechanism of cystic fibrosis. The CFTR gene mutation leads to the production of abnormal CFTR protein, which results in the impaired chloride ion transport across epithelial cell membranes. This, in turn, causes an imbalance in water and salt secretion, leading to the production of thick, sticky mucus. The primary organs affected by this condition are the lungs, where the mucus clogs airways, and the pancreas, where the mucus blocks the release of digestive enzymes.
**Why Each Wrong Option is Incorrect**
* **Option A:** While cystic fibrosis is a genetic disorder, it is not primarily related to a mutation in the dystrophin gene, which is associated with Duchenne muscular dystrophy.
* **Option B:** Cystic fibrosis is not primarily related to a mutation in the BRCA1 gene, which is associated with breast cancer.
* **Option C:** Cystic fibrosis is not primarily related to a mutation in the HLA-B27 gene, which is associated with ankylosing spondylitis.
**Clinical Pearl / High-Yield Fact**
Cystic fibrosis is a classic example of a genetic disorder that affects multiple organs, and its diagnosis relies heavily on genetic testing, particularly for the CFTR gene mutation. Patients with cystic fibrosis often present with recurrent respiratory infections, pancreatic insufficiency, and elevated sweat chloride levels.
**Correct Answer: C. CFTR gene**