1. Symptoms of Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive genetic disorder that primarily affects the lungs, but also the pancreas, liver, kidneys, and intestines. Common symptoms include:

• Persistent cough
• Frequent lung infections
• Wheezing
• Shortness of breath
• Excessive sweating
• Salty-tasting skin
• Poor growth
• Difficulty gaining weight
• Infertility

2. Gene and Body Compromise

CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides instructions for making a protein that regulates the movement of salt and water in and out of cells. In individuals with CF, the defective CFTR protein causes thick, sticky mucus to build up in the lungs, digestive tract, and other organs.

3. Affected and Unaffected Individuals

• Affected Individuals: Individuals who inherit two copies of the mutated CFTR gene, one from each parent, are affected by CF.
• Carriers: Individuals who inherit one normal copy and one mutated copy of the CFTR gene are carriers. They do not have CF but can pass the mutated gene to their offspring.
• Unaffected Individuals: Individuals who inherit two normal copies of the CFTR gene are not affected by CF and cannot pass the mutated gene to their children.

4. Screening and Diagnostic Tools

• Newborn Screening: Many countries screen newborns for CF using a simple blood test.
• Sweat Test: Measures the amount of salt in sweat. Elevated levels of salt are characteristic of CF.
• Genetic Testing: Can confirm a diagnosis of CF by identifying mutations in the CFTR gene.

5. Treatment Options

While there is no cure for CF, treatments can significantly improve the quality of life and life expectancy of individuals with the condition. Treatments include:

• Medications: To manage lung infections and inflammation.
• Chest Physical Therapy: To help clear mucus from the lungs.
• Inhaled Medications: To help loosen mucus and improve lung function.
• Pancreatic Enzyme Replacement Therapy: To aid in digestion and nutrient absorption.
• Lung Transplantation: In severe cases, lung transplantation may be considered as a treatment option.

Advances in medical care have dramatically improved the prognosis for individuals with CF. With early diagnosis and effective treatment, many people with CF can now live well into adulthood.