Kartagener Syndrome

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Kartagener Syndrome 카르타게너 증후군

What is Kartagener’s syndrome?

Kartagener’s syndrome is a rare hereditary disease. It’s caused by a mutation that can occur on many different genes. It’s autosomal recessive, which means you must inherit a mutated gene from both of your parents to develop it.

According to researchers in the Indian Journal of Human GeneticsTrusted Source, an estimated 1 in 30,000 people are born with Kartagener’s syndrome. It causes abnormalities in your respiratory tract. They’re known as primary ciliary dyskinesia. It also causes the positioning of some or all of your vital organs to be reversed or mirrored compared to their normal positioning. This is known as situs inversus.

There’s no known cure for Kartagener’s syndrome. However, your doctor can prescribe treatment to help manage your symptoms, lower your risk of complications, and improve your quality of life.

What are the symptoms of Kartagener’s syndrome?

Kartagener’s syndrome involves two main characteristics: primary ciliary dyskinesia (PCD) and situs inversus. PCD can cause a number of symptoms, including:

  • frequent respiratory infections
  • frequent sinus infections
  • frequent ear infections
  • chronic nasal congestion
  • infertility

Situs inversus doesn’t usually cause health problems.

What is primary ciliary dyskinesia?

PCD is an abnormality of your cilia. Your cilia are hair-like structures that line the mucus membranes of your lungs, nose, and sinuses. Normal cilia move in a wave-like motion. They help transport mucus out of your airways, through your nose and mouth. This action helps clear your sinuses and lungs of germs that can cause infections.

When you have PCD, your cilia don’t move properly. They may move in the wrong direction, move very little, or not move at all. This impairs their ability to transport mucus and bacteria out of your respiratory tract. This can lead to chronic infections in your lower and upper airways.

Chronic respiratory infections can lead to bronchiectasis. In this condition, your airways become widened and scarred. Common symptoms of bronchiectasis include chronic cough, shortness of breath, and fatigue. In some cases, your fingers and toes may become clubbed. This is probably caused by a lack of oxygen to your extremities.

You may also experience chronic sinusitis. This is a persistent infection that occurs in the hollow air spaces inside your skull, known as your sinuses. It involves inflammation and swelling. It can lead to recurrent ear infections, known as otitis media. These ear infections may be severe enough to cause permanent damage to your tissues. They may even cause hearing loss.

The moveable tails, or flagella, of sperm can also be affected by PCD. This can cause abnormal sperm motility and infertility in men. Women with Kartagener’s syndrome can also be infertile, due to impaired cilia motility in the lining of their fallopian tubes.

What is situs inversus?

In situs inversus, your vital organs develop on the opposite side of your body than usual, forming a mirror image of the normal positioning. For example, your liver may develop on the left side of your body instead of the right. This is also known as transposition.

If you have Kartagener’s syndrome, you can have different organ configurations:

  • situs inversus totalis, where all of your internal organs are transposed
  • situs inversus thoracalis, where only your lungs and heart are transposed
  • situs inversus abdominalis, where only your liver, stomach, and spleen are transposed

Situs inversus doesn’t tend to cause health problems. If you have Kartagener’s syndrome, your heart and other vital organs will probably function normally, except for any problems caused by PCD.

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How is Kartagener’s syndrome diagnosed?

It’s possible to have only PCD, without situs inversus. If you have both, you have Kartagener’s syndrome.

Kartagener’s syndrome is sometimes diagnosed at birth, when a newborn experiences respiratory distress and needs oxygen therapy. But it’s more often discovered in early childhood. If you or your child has chronic respiratory infections, chronic sinusitis, or recurring ear infections with no other apparent cause, your doctor may check for PCD and Kartagener’s syndrome.

To help diagnose PCD and Kartagener’s syndrome, your doctor may check for signs of:

  • nasal polyps
  • reduced sense of smell
  • hearing loss
  • clubbed fingers and toes

They may also order breathing tests, tissue biopsies, semen analysis, or imaging scans.

They can use a breathing test to measure how much nitric oxide you breathe out. People with PCD tend to exhale less nitric oxide than normal. Your doctor may also ask you to breathe in particles that have a low level of radiation. When you breathe out, they can test how well your cilia moved the particles.

Your doctor may also collect a small sample of tissue from inside your nose, trachea, or other area with cilia. A laboratory technician can examine the cilia in your tissue sample for structural abnormalities. They can also assess your cilia’s movement, beat frequency, and coordination.

Your doctor may collect a sample of semen to send to a laboratory for testing. The laboratory staff can check for structural abnormalities and low motility.

Your doctor may use chest X-rays and computed tomography (CT) scans to look for lung over-inflation, bronchial wall thickening, and sinus malformations. They can also use imaging tests to check for situs inversus.

How is Kartagener’s syndrome treated?

There’s no known cure for Kartagener’s syndrome, but your doctor can prescribe a treatment plan to help manage your symptoms and lower your risk of complications.

For example, they may prescribe long-term, low-dose antibiotics and immunizations. These can help control chronic respiratory and sinus infections. They may also recommend inhaled corticosteroids to ease symptoms of bronchiectasis.

Your doctor may also refer you to a cardiopulmonary specialist. They may use bronchoscopy and tracheotomy procedures to suction mucus out of your airways. These procedures are types of “pulmonary hygiene.”

If you develop severe lung damage, your doctor may recommend lung transplant surgery.

Most people with Kartagener’s syndrome can expect a normal lifespan. It’s important to follow your doctor’s prescribed treatment plan to properly manage your condition.

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