← All diseases

Lung diseases

Primary ciliary dyskinesia (PCD)

An inherited disease in which tiny hair-like cell projections in the airways do not work well. Mucus cannot be cleared. Lung, sinus and ear infections are frequent.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Lung diseases” group.

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?

The airways have very small hairs called cilia. They sweep mucus and germs out. In this disease, the cilia do not work well. Mucus builds up and infections are frequent. Cilia also affect where the organs are placed in the body.

Which symptoms can occur?

Symptoms usually begin right after birth.

  • Breathing difficulty in newborns (in most)
  • A blocked nose and cough all year round (common)
  • Frequent lung and sinus infections
  • Frequent middle ear infections; hearing loss
  • Organs placed on the opposite side, like a mirror image (in about half)
  • Difficulty having children in men and in some women

How is it diagnosed?

Measuring nitric oxide in the air from the nose is a screening test. The cilia in a small sample taken from the nose are examined under a microscope. A genetic test also helps with the diagnosis.

Treatment and care

There is no approved treatment specific to the disease; research is ongoing. The basis of care is daily airway clearance. Infections are treated with antibiotics. Nose and ear care and regular hearing checks are important. If needed, hearing aids and speech therapy are used. With severe lung damage, a transplant may be considered. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is mostly inherited recessively. The mother and father are usually healthy carriers. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. This chance can be higher when parents are related by blood. Less often, X-linked inheritance is seen. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Primary ciliary dyskinesia · NORD: Primary Ciliary Dyskinesia · Orphanet: Primary ciliary dyskinesia (ORPHA:244)

Key facts

When does it usually start?
Newborn period
Gene(s) involved
RPGR, DNAH11, DNAH5, DNAI1, OFD1, NME8

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.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

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 PCD

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 8 active interventional studies for this disease. 4 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:244

No separate ICD-11 code; WHO classifies this disease under: LA75.Y

Codes checked against WHO ICD-11 and Orphanet on October 7, 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.