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Lung diseases

Cystic fibrosis

An inherited disease that causes thick, sticky secretions in the lungs and digestive system. It is included in newborn screening in Türkiye.

Included in Türkiye's National Newborn Screening Programme (heel-prick test) since January 2015. Source

Orphanet has a guideline for emergency doctors for this disease (language: German, Spanish, French, Italian, Portuguese). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In cystic fibrosis, the body's secretions become thick and sticky. This is because a channel that lets salt and water pass through cells does not work. The thick mucus builds up in the lungs and digestive system. Over time, the lungs and pancreas can be damaged.

Which symptoms can occur?

How severe the symptoms are varies from person to person. Mild types may be noticed in adulthood.

  • A persistent cough with phlegm, and wheezing (common)
  • Frequent lung infections (common)
  • Diarrhea, constipation or changes in stools (common)
  • Not gaining enough weight and delayed growth in children (common)
  • Very salty sweat (common)
  • Diabetes at older ages (sometimes)
  • Infertility in men (common)
  • Changes in the shape of the nails (sometimes)

How is it diagnosed?

Newborn screening can detect the disease before symptoms begin. If the screening result is suspicious, a sweat test is done. This test measures the amount of salt in sweat. A genetic test also supports the diagnosis.

Treatment and care

Care is based on keeping the lungs clear and supporting nutrition. Physiotherapy to clear phlegm, medicines against infection and digestive enzyme supplements are used. There are also new medicines that target the underlying problem of the disease. In very severe cases, a lung transplant may be considered. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

To have the disease, a person must receive one changed gene from the mother and one from the father. Carriers have no symptoms. If the mother and father are carriers, the risk is 1 in 4 in each pregnancy. Relatives of the patient can receive genetic counselling about carrier testing.

Source: MedlinePlus Genetics — Cystic fibrosis · NHS — Cystic fibrosis · Orphanet — Cystic fibrosis (ORPHA:586)

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe) · Birth prevalence: 1-5 per 10 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Any age
Gene(s) involved
CFTR

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Cystic fibrosis

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 99 active interventional studies for this disease. 56 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lung diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:586 · ICD-11 CA25

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.