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Disease Atlas / Disease detail

Cystic fibrosis

An evidence-led atlas of CFTR dysfunction, multisystem respiratory and digestive disease, sweat testing, and genotype-directed therapy.

cystic fibrosis · CF

MONDO:0009061Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 42b000f7355c

Disease class
Cystic fibrosis is a multisystem genetic disorder that can affect the airways, pancreas and intestine, liver, reproductive tract, and sweat glands.
Core mechanism
It is caused by biallelic pathogenic CFTR variants and is inherited in an autosomal-recessive manner.
Genes or cause
Abnormal CFTR ion transport contributes to airway-surface dehydration and thick secretions.
Typical features
Chronic cough, recurrent lung infection, bronchiectasis, and progressive lung-function decline can occur.
Variability
Pancreatic insufficiency can impair nutrition and growth, and some people develop diabetes or liver disease.
Diagnosis
Diagnosis combines compatible clinical features or newborn screening with evidence of CFTR dysfunction.
Management
Standardized sweat chloride testing is central; intermediate results may require repeat, extended genetic, or functional testing.
Treatment and research
Failure to identify two CF-causing variants alone does not exclude CF when clinical evidence remains compatible.
Reading evidence
CFTR modulators are used to restore some function when age and an approved responsive genotype are matched.
Key caution
Airway clearance, exercise, infection-directed antibiotics, and mucus and inflammation management are pillars of lung care.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a glance

Cystic fibrosis is a multisystem genetic disorder that can affect the airways, pancreas and intestine, liver, reproductive tract, and sweat glands.

Chronic cough, recurrent lung infection, bronchiectasis, and progressive lung-function decline can occur.

How the disease works

It is caused by biallelic pathogenic CFTR variants and is inherited in an autosomal-recessive manner.

Abnormal CFTR ion transport contributes to airway-surface dehydration and thick secretions.

Why experiences vary

Pancreatic insufficiency can impair nutrition and growth, and some people develop diabetes or liver disease.

Diagnosis and management

Diagnosis combines compatible clinical features or newborn screening with evidence of CFTR dysfunction.

Treatment status

Standardized sweat chloride testing is central; intermediate results may require repeat, extended genetic, or functional testing.

Failure to identify two CF-causing variants alone does not exclude CF when clinical evidence remains compatible.

Reading clinical trials

A specialist CF team monitors lung function, cultures, growth and nutrition, diabetes, liver and bone health, and mental health.

Topics for a clinical visit

Clinical discussion should cover sweat testing and genotype, lung infection, nutrition and organ complications, treatment eligibility, and interactions.

Medical notice

This material is for disease education and is not a personal diagnosis or treatment instruction.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.