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Cystic Fibrosis

Discover the latest breakthroughs and promising treatments for Cystic Fibrosis, a genetic disorder affecting the lungs and digestive system, that could potentially change the lives of millions worldwide.

USMLE Guide: Cystic Fibrosis


Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems. This guide aims to provide a comprehensive overview of CF, including its etiology, clinical features, diagnostic approach, and management strategies.


CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to a defective or absent CFTR protein. The CFTR protein is responsible for regulating the movement of chloride ions across cell membranes, leading to abnormalities in the production of sweat, digestive juices, and mucus.

Clinical Features

  1. Respiratory System: CF commonly presents with chronic cough, recurrent respiratory infections, and persistent wheezing. Patients may develop bronchiectasis, pulmonary fibrosis, and respiratory failure over time.
  2. Digestive System: CF can affect the pancreas, leading to pancreatic insufficiency and malabsorption. This results in steatorrhea, weight loss, and nutritional deficiencies. Meconium ileus may occur in neonates.
  3. Other Manifestations: CF can also involve the hepatobiliary system, leading to liver disease. Male infertility due to obstructive azoospermia is another feature of CF.

Diagnostic Approach

  1. Newborn Screening: CF is included in the routine newborn screening panel in most countries. It involves measuring immunoreactive trypsinogen (IRT) levels, followed by a sweat chloride test if IRT levels are elevated.
  2. Sweat Chloride Test: The gold standard for CF diagnosis. A sweat sample is collected, and chloride levels are measured. Values above 60 mmol/L are consistent with CF.
  3. Genetic Testing: Identification of CFTR gene mutations can confirm the diagnosis and determine the specific mutation involved.


  1. Airway Clearance: Regular airway clearance techniques, such as chest physiotherapy and the use of positive expiratory pressure devices, help mobilize and clear mucus from the airways.
  2. Pancreatic Enzyme Replacement: Oral pancreatic enzyme supplements are given with meals to aid in digestion and prevent malabsorption.
  3. Nutritional Support: A high-calorie, high-protein diet is essential to maintain adequate nutrition. Vitamin supplementation may be necessary.
  4. Infection Control: Aggressive treatment of respiratory infections, including the use of appropriate antibiotics, is crucial to prevent exacerbations and lung damage.
  5. Lung Transplantation: In severe cases of CF with progressive respiratory failure, lung transplantation may be considered.


The prognosis for CF has significantly improved over the years due to advances in treatment. However, it remains a life-limiting condition. The median survival age has increased to the mid-40s, with some patients living into their 50s and beyond.


Cystic fibrosis is a genetic disorder with multisystem involvement, primarily affecting the respiratory and digestive systems. Early diagnosis, comprehensive management, and close monitoring are essential to optimize outcomes and improve the quality of life for patients with CF.

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