Kartagener's syndrome

Kartagener's syndrome is a rare autosomal or "single gene" genetic disorder, and is a type of primary ciliary dyskenesia. In other words, the flagella and cilia — finger-like projections on the outside of cells — do not move as they should. This disorder is characterized by the mirror-image reversal of internal organs (situs invertus totalis) and can lead to neonatal respiratory distress; frequent lung, sinus, and ear infections; and infertility.

What is Kartegener’s syndrome?

Kartagener’s syndrome is a rare autosomal or “single gene” recessive genetic disorder. This condition is a type of primary ciliary dyskinesia, a disorder in which the hair-like structures on the outside of a cell — which normally help it move — are dysfunctional.
Kartagener’s syndrome causes abnormalities in the respiratory tract, including neonatal respiratory problems and frequent lung, sinus, ear infections. That’s because cilia are responsible for moving mucus out of the airways; without functioning cilia, mucus accumulates unchecked. Because the flagella, or tail, of the sperm is related to cilia, Kartagener’s can lead to infertility as a result of poor sperm motility (movement). It’s also characterized by the mirror-image reversal of internal organs, also known as “situs invertus totalis.”

Kartegener’s syndrome and fertility

Kartagener’s syndrome can cause infertility in all sexes. In people with testes, the flagella — also known as the “moving tails” — of sperm can be directly affected by Kallmann’s syndrome. In people with ovaries, Kallmann’s syndrome causes impaired ciliar mobility in the lining of the fallopian tubes, contributing to infertility. Those with this condition may have to consider alternatives to conceive, including assisted reproductive technology (ART) procedures.

Causes of Kartegener’s syndrome

Similar to Kallmann syndrome, Kartagener’s syndrome is also caused by mutations to certain genes. Studies have shown that mutations on genes DNAH5 and DNA11, on bands 5p15.1 and 9p13.3, cause primary ciliary dyskinesia. 

As Kartagener’s syndrome is a genetic disorder, people with this disorder must have inherited a mutated gene from both of their parents.

Treatment of Kartegener’s syndrome

There is currently no known cure for Kartagener’s syndrome. As a result, doctors will typically prescribe patients medications and treatments to minimize the symptoms of this disorder, including lung, sinus, and ear infections. Long-term antibiotics are also used to help reduce the impact of respiratory issues. Treatment varies from patient to patient, but typically features some form of airway clearance and low-dose antibiotics.

Fertility treatments for Kartagener’s syndrome patients include IVF with ICSI.

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