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Kartagener Syndrome

Kartagener Syndrome



Overview

Kartagener syndrome is a type of primary ciliary dyskinesia or PCD, that may also cause reversed internal organs. This means your organs are on the opposite side of your body from where they should be. 

Primary ciliary dyskinesia is a genetic condition where the cilia aren’t working properly. Cilia are hair-like structures on the surface of your cells and are found in your lungs, airways, and other areas. They move in a wave-like motion to help position organs during a baby’s growth in the womb, and they help move out mucus, bacteria, and debris from your lungs and airways.   

In PCD and Kartagener syndrome, these cilia don’t move or they don’t move very well, which causes ongoing lung, sinus, and ear problems. Not all people with PCD have reversed organs, so Kartagener syndrome is a subtype of the disease.

Symptoms

The main symptom of Kartagener syndrome is lung problems. Because the cilia don’t work properly, you have trouble moving debris and fluid from your lungs. The severity of symptoms can vary for each person, but they usually start at birth. 

The first sign is a baby who coughs, chokes, gags, and goes into neonatal (newborn) respiratory distress right after birth. This is thought to happen because proper cilia are needed to clear any amniotic fluid from the womb out of a newborn’s lungs. 

Other Kartagener syndrome symptoms include:

Frequent lung infections

Chronic coughing

Wet and productive cough

Too much mucus

Frequent sinus infections

Frequent middle ear infections

Hearing loss

Scarring in your lungs 

Severe lung damage

Infertility 

Hydrocephalus, or fluid buildup on your brain

Related:

What Is Dry Drowning?

While Kartagener syndrome causes reversed organs, it doesn’t usually lead to other symptoms. Some people with the syndrome are born with heart defects, though. 

Cilia are also in other organs like your brain and reproductive tract. As a result, people with Kartagener syndrome may experience problems with fluid on the brain and infertility. In men, infertility is caused by sperm that can’t move very well. Women might have ectopic pregnancies where the egg doesn’t move well and is fertilized in your tubes or elsewhere instead of in the uterus. 

Causes

Kartagener syndrome and PCD are autosomal recessive genetic conditions. Recessive disorders happen when you inherit a mutated gene from both parents. If you get one normal gene and one mutated gene, you will be a carrier but won’t have any symptoms. 

You can pass the gene on to your children. If your partner doesn’t have the mutated gene, your children will have a 50% chance of being a carrier. 

Diagnosis

A Kartagener syndrome diagnosis starts with a physical exam and history of your symptoms. If your doctor suspects you have a problem with your cilia, they might do different tests. These include:

Electron microscopy where they take a tissue sample or scrape your nose and look at how the cilia move

X-rays to look at your lungs and internal organs

Computed tomography (CT) scan

Nitric oxide test where they measure how much nitric oxide you breathe out, typically lower in people with ciliary problems

Hearing tests

Your doctor might use some of these tests to diagnose complications like hearing loss or other problems. Electron microscopy is considered the best way to diagnose the condition itself. If this test is positive, you might have genetic testing done to confirm the results.

Treatment

There is no cure for Kartagener syndrome. The main treatments focus on keeping airways clear and loosening and getting rid of thick, extra fluid, mucus, and debris. This is called airway clearance therapy and is similar to cystic fibrosis treatment. It helps keep your lungs and tissue as healthy as possible for as long as possible.

Specific Kartagener syndrome treatment includes:

Regular sinus washes

Regular ear canal washes

Steroids

Mucus thinners, called mucolytics

Antibiotics

Bronchodilators to relax lung muscles for easier breathing

Ear tubes

Speech therapy

Hearing aids

Heart surgery for defects

Lung transplant in severe cases

It’s also important to get vaccines to prevent serious disease from viruses. These include a yearly flu vaccine along with regular childhood vaccines. You should not smoke, and children with Kartagener syndrome shouldn’t be exposed to smoke. 

Kartagener syndrome is a lifelong condition and regular appointments with your doctor are key to managing your symptoms and condition. 

Type of Doctor Department : A pulmonologist and an otolaryngologist (ENT specialist)

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