Definition

What is Kartagener syndrome?

Kartagener syndrome is a rare hereditary disease that is caused by a mutation that can occur on many different genes. This condition causes abnormalities in your respiratory tract, which is known as primary ciliary dyskinesia. Kartagener syndrome also causes the positioning of some or all of your vital organs to be reversed or mirrored compared to their normal positioning (situs inversus.)

How common is Kartagener syndrome?

The incidence of the genetic disorder is 1 in 32,000 births. However, higher incidences have been found in communities in which consanguineous marriages are common. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Kartagener syndrome?

Kartagener’s syndrome involves two main characteristics: primary ciliary dyskinesia (PCD) and situs inversus.

In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems.

The signs and symptoms of primary ciliary dyskinesia vary, but may include:

  • Neonatal respiratory distress
  • Frequent respiratory infections that can lead to severe lung damage
  • Chronic nasal congestion
  • Frequent sinus infections
  • Recurrent middle ear infections, particularly in early childhood
  • Hearing loss
  • Hydrocephalus
  • Infertility

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Kartagener syndrome?

Kartagener syndrome can be caused by changes (mutations) in many different genes. These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs. The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome.

Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases.

Risk factors

What increases my risk for Kartagener syndrome?

Kartagener syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Kartagener syndrome diagnosed?

Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue (biopsy) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change (mutation) is known, genetic testing can also be used to confirm the diagnosis.

How is Kartagener syndrome treated?

There is currently no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Kartagener syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: April 11, 2018 | Last Modified: April 11, 2018

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