Cystic Fibrosis (CF)

CF is an autosomal recessive disorder caused by pathogenic variants in the CFTR gene, leading to thick secretions affecting the lungs, pancreas, liver, intestines, and reproductive system. Newborn screening and CFTR modulators have dramatically improved survival.

Symptoms & Organ Involvement

• Chronic productive cough, recurrent infections, bronchiectasis
• Exocrine pancreatic insufficiency (poor weight gain, steatorrhea)
• CF-related diabetes, liver disease, distal intestinal obstruction syndrome
• Male infertility (congenital bilateral absence of vas deferens)
• Sinus disease, nasal polyps, clubbing

Diagnosis

• Newborn screening (IRT levels + DNA)
• Sweat chloride test ≥60 mmol/L confirms CF
• CFTR genetic testing to identify mutations
• Lung function tests (spirometry), imaging (HRCT)
• Microbiologic cultures (Pseudomonas, Staph aureus)
• Pancreatic elastase, fat-soluble vitamin levels

Treatment & Management

CFTR Modulators (based on genotype)

• Elexacaftor/tezacaftor/ivacaftor (ETI/Trikafta) for most patients ≥2 years with at least one F508del allele
• Tezacaftor/ivacaftor or lumacaftor/ivacaftor for other mutations
• Ivacaftor for gating mutations (G551D)
• Monitor LFTs, mental health, interactions

Airway Clearance & Pulmonary Care

• Daily airway clearance techniques (vest therapy, oscillating PEP, autogenic drainage)
• Inhaled medications: hypertonic saline, dornase alfa, aztreonam or tobramycin for chronic Pseudomonas
• Oral azithromycin for anti-inflammatory effect
• Vaccinations (influenza, COVID-19, RSV)
• Pulmonary rehab, exercise, nutrition support
• Lung transplant evaluation for advanced lung disease

GI & Nutrition

• Pancreatic enzyme replacement therapy (PERT)
• High-calorie, high-protein diet; fat-soluble vitamin supplementation
• CF-related diabetes management (insulin)
• Treat CF liver disease, gallstones

Fertility & Psychosocial

• Genetic counseling, reproductive technology (ICSI for males)
• Mental health support; CFTR modulators can impact mood
• Transition planning from pediatric to adult CF centers

Living with CF

• Track lung function, weight, enzymes, medications, cultures, glucose, and mental health
• Strict infection control to avoid cross-infection (masking, distancing in CF clinics)
• Plan for transitions (school, work) with a multidisciplinary team
• Stay active to maintain lung capacity and bone health

Complications

• Chronic lung infections, antibiotic resistance
• Hemoptysis, pneumothorax
• CF-related diabetes, osteopenia, kidney stones
• Depression/anxiety, medication burden

Research & Future Directions

Gene therapy/editing, mRNA CFTR delivery, anti-inflammatory strategies, and phage therapy are in trials to address remaining unmet needs, especially for rare mutations unresponsive to current modulators.

Experimental & Emerging Treatments

• mRNA & Gene Editing: Lipid nanoparticle-delivered CFTR mRNA, CRISPR editing targeting airway stem cells.
• CFTR Amplifiers & Nonsense Suppressors: Address rare nonsense mutations (e.g., ELX-02).
• Phage Therapy & Novel Antibiotics: Combat multidrug-resistant Pseudomonas/Burkholderia.
• Regenerative Medicine: Lab-grown airway tissue for transplantation.

Track CF with Diagnoza.care

Partner with Your CF Care Team – Log airway clearance sessions, inhaled/oral meds, weight/BMI, PFTs, cultures, glucose, nutrition, CFTR modulator adherence, hospitalizations, and lung transplant milestones; capture side effects; and let the AI companion highlight trends signaling infection or medication adjustments.

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Medical Disclaimer: Informational only. Work with your accredited CF center for mutation-specific therapy, infection control, and multidisciplinary care. Sources: Cystic Fibrosis Foundation, European Cystic Fibrosis Society, National Institutes of Health