Primary Ciliary Dyskinesia (PCD)

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Primary ciliary dyskinesia (PCD) is a rare inherited condition that causes the cilia in the airways not to work properly. Cilia are hair-like structures that create a wave-like motion to help move particles out of our bodies.

Specifically in our airways (nose, ears, lungs), cilia help keep bacteria, dust and other small items from entering, while also clearing out the mucus produced by our glands. When the cilia don’t move correctly, it allows things to enter our airways and causes mucus build-up that leads to infections in the ears, sinuses and lungs. PCD is a non-curable condition that requires lifelong treatment.

What causes primary ciliary dyskinesia (PCD)?

Primary ciliary dyskinesia is a genetic disease caused by an abnormal gene inherited from parents. Both parents need to pass this mutated gene for a child to be born with PCD. There are many different gene mutations have been identified as causes of PCD.

Symptoms of primary ciliary dyskinesia (PCD)

Many children born with primary ciliary dyskinesia have symptoms from birth or as an infant. A baby needing oxygen for a few days to weeks after birth is one early symptom of PCD, because the condition makes breathing difficult. However, individual symptoms are different depending on the severity of your child’s condition. Common symptoms of primary ciliary dyskinesia include:

• Constant blocked/runny nose
• Chronic cough
• Difficulty clearing mucus
• Excess mucus
• Hearing problems/loss
• Wheezing
• Finger swelling
• Lack of response to antibiotics
• Middle ear infections
• Newborn respiratory distress
• Recurring cold symptoms
• Recurring pneumonia, bronchitis and other lung infections
• Severe sinus infections

In addition to external symptoms, many children with PCD to also experience situs inversus, a condition in which the organs form on the opposite side of the body. It occurs when the genetic mutation causing PCD also affects the cilium that help guide organ development in utero.

How is primary ciliary dyskinesia (PCD) diagnosed?

Primary ciliary dyskinesia can be challenging to diagnose because there is no single test to confirm the condition and symptoms can present themselves as other disorders. While many children have symptoms from birth, they might not be diagnosed until later in childhood. Because PCD is a progressive disease, meaning it worsens over time, early diagnosis is important to start treatment and help slow the advancement. Below are various tests used to diagnose primary ciliary dyskinesia in children:

• Review of medical history
• Physical examination
• Chest X-ray
• CT Scan
• Blood tests
• Genetic Test: Determines if you have mutated genes linked to the condition.
• Nasal Nitric Oxide (NO): Uses a sample of your child’s breath and measures the level of nitric oxide gas in exhaled breath. Children with PCD have low levels of nitric oxide.
• Pulmonary Function Test: Looks at how fast your child can breathe, how much they can breathe, and how well the lungs work to give oxygen to the blood.
• Nasal Scrape Ciliary Biopsy: Uses a small brush and nasal swab to retrieve samples and assess how well the cilia in the airways function.

How is primary ciliary dyskinesia (PCD) treated?

While there is no cure for primary ciliary dyskinesia, ongoing treatment can improve lung function and slow condition progression. Below are some of the common treatments for children with PCD:

• Antibiotics: Antibiotics help with respiratory infections and are typically given through an IV when symptoms are severe. In some cases, the IV can be given at home.
• Airway Clearance Methods: Airway clearance uses breathing and coughing techniques to keep the lungs clear of mucus buildup and inhaled debris.
• Chest Therapy: Chest therapy breaks up and loosens mucus from the lungs through a device that pounds the chest.
• Checkups: Regular checkups will be important to monitor, control and treat any symptoms or infections that arise.
• Oxygen Treatment: In some severe cases, supplemental oxygen is needed to support breathing.
• Lung Transplant: In the most severe PCD patients, where the lungs are failing, a lung transplant may be necessary. However, this is not a common treatment for children with PCD.

What are possible complications of PCD?

Children with primary ciliary dyskinesia can experience added complications beyond that may include:

• Respiratory tract infections: The low functioning cilia make the respiratory tract vulnerable to infections from bacteria and viruses entering the airways.
• Lung Infections: Particles and mucus build up in the respiratory tract, caused by impaired cilia function, can lead to recurrent lung infections.
• Bronchiectasis: Repeated, serious lung infections can lead to scarring from inflammation on the inside of the bronchi. This scarring thickens the bronchus walls permanently causing further mucus buildup in these passages and damage to cilia. Since the bronchi are the passages that allow air to enter the lungs, this condition causes breathing to become difficult.
• Respiratory failure: When breathing is impaired, it reduces the amount of oxygen getting to the blood as well as carbon dioxide leaving the blood and can result in respiratory failure that requires breathing support from external devices.
• Hearing problems: The genetic mutations that cause PCD can also affect the cilia in the ears, which function like cilia in the airways. It helps keep debris and bacteria out of the ear canal while also clearing any mucus build up. When the cilium doesn’t work properly it can cause chronic ear infections that lead to hearing issues.
• Situs Inversus: Some children with PCD also experience situs inversus where their organs develop on the opposite side of the body. When the genetic mutation that causes PCD also affects the fetal cilia, the organs can form from right to left resulting in a mirrored organ position.
• Female infertility or subfertility: The genetic mutations causing PCD can also affect cilia in the female reproductive organs. Women have cilia in their fallopian tubes that help move eggs from the ovaries to the uterus. When that cilium does not function properly, the egg can’t move to the uterus for fertilization. As a result, women with PCD may struggle with infertility (inability to conceive children naturally) or subfertility (delayed conception).
• Male infertility: The genetic mutations that cause PCD can also affect cilia in the male reproductive system. Cilia make up the tail (flagellum) that propels sperm cells toward the egg. When that cilium (flagella) is not functioning properly, the sperm has a hard time reaching the egg for fertilization. As a result, men with PCD may struggle with infertility.