What Is Cystic Fibrosis?
Cystic fibrosis is a genetic disease of inherited nature, which is brought about by mutations in CFTR gene. It contributes to the secretion of excessively thick and sticky mucus of the lungs and the gastrointestinal tract, which may result in difficulties with breathing, frequent infections, and intestinal absorption disorder.
Common Causes and Risk Factors
- Inherited mutations in both copies of the CFTR gene (one from each parent)
- Having a family history of cystic fibrosis
- No known environmental triggers
Signs and Symptoms
- Persistent, productive cough with thick mucus
- Frequent lung infections such as bronchitis or pneumonia
- Wheezing, shortness of breath, or chest tightness
- Poor weight gain or growth despite a good appetite
- Greasy, bulky stools or difficulty digesting fats
How Dr. Rishi Diagnoses Cystic Fibrosis?
Dr. Chadha uses a step-by-step approach:
Medical History and Physical Exam
He examines you, your breathing condition and developmental patterns, family history of CF, and gives you a complete lung and abdominal examination.
Sweat Chloride Test
This is a gold standard test which will help in perspiration of chloride. High levels establish CFTR impairment.
Genetic Testing
A blood or saliva sample is analyzed for CFTR gene mutations. Identifying specific gene variants guides treatment choices.
Lung Function Tests
- Spirometry - Measures forced vital capacity (FVC) and FEV1 to assess airflow limitation.
- Body plethysmography - Evaluates lung volumes and airway resistance when needed.
Chest Imaging Studies
The bronchiectasis, mucus plugging or pulmonary injury is seen on chest X-rays or high-resolution CT scans.
Advanced Testing (if needed)
Equivocal cases could be quantified by potential difference test on nasal epithelium.
Frequently Asked Questions
What is Cystic Fibrosis?
Cystic fibrosis is a hereditary disease that causes thick and sticky mucus to accumulate in the lungs and digestive system, leading to breathing difficulties and poor nutrient absorption.
Inheritance of Cystic Fibrosis
CF occurs when both parents carry mutations in the CFTR gene. The probability of a child being born with CF is 25% per pregnancy if both parents are carriers.
Typical Signs and Symptoms
Common signs include chronic cough with sputum, frequent lung infections, wheezing, slow weight gain, greasy stools, and difficulty digesting food.
Diagnosis
Dr. Chadha diagnoses CF using sweat chloride tests, genetic screening for CFTR mutations, lung function tests, and imaging such as chest X-ray or CT scan.
Treatment Options
Treatment involves pancreatic enzyme supplements, chest physiotherapy, CFTR modulator drugs, mucus thinners, inhaled antibiotics, and vitamin supplementation.
Lifestyle Modifications
Healthy lifestyle practices include a high-calorie, protein-rich diet, proper hydration, regular chest clearance exercises, and taking pancreatic enzymes prior to meals.
Advanced or Minimally Invasive Interventions
Advanced procedures may include bronchoscopy to open airways, sinus surgery for chronic sinusitis, and PEG tube placement for supplemental feeding.
Follow-up and Care Team
Routine follow-up is recommended every 3-6 months, or sooner during symptom flare-ups, to monitor lung function, nutrition, and overall health. Care is provided by a multidisciplinary team including pulmonologists, dietitians, and respiratory therapists.
Life Expectancy
With modern treatments and comprehensive care, individuals with CF can expect to live into their 40s and beyond, with ongoing improvements in care and therapy.