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What is Kartagener syndrome caused by?

What is Kartagener syndrome caused by?

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.

Is primary ciliary dyskinesia the same as Kartagener syndrome?

Kartagener syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus, are classified as having Kartagener syndrome.

Does Young syndrome cause diffuse bronchiectasis?

Young syndrome presents with the clinical triad of chronic sinusitis, bronchiectasis, and obstructive azoospermia.

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Who does Kartagener syndrome affect?

It is autosomal recessive, meaning that it only occurs if both parents carry the gene. Kartagener syndrome affects approximately 30,000 people, including all genders. It is known for its two main abnormalities — primary ciliary dyskinesia and situs inversus.

Can people with Kartagener syndrome have kids?

As Kartagener syndrome is a form of PCD, the motility of cilia will be affected by this disease, and as a result, infertility is not uncommon in patients with PCD.

How long can you live with Kartagener syndrome?

Prognosis in PCD is good, with a normal life expectancy [12]. Diagnosis of PCD can be problematic, with wide variation in symptoms and scarcity of diagnostic facilities [4]. Age at presentation in one study varied from 4 months to 51 years [13].

How common is Kartagener syndrome?

Primary ciliary dyskinesia occurs in approximately 1 in 16,000 to 20,000 births. That translates to the incidence of Kartagener syndrome as 1 in 32,000 to 40,000 births.

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What is the life expectancy of someone with Kartagener syndrome?

In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. Fortunately, primary ciliary dyskinesia and Kartagener syndrome usually become less problematic near the end of the patient’s second decade, and many patients have near normal adult lives.

How does Kartagener syndrome cause infertility?

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 William Campbell syndrome?

Williams-Campbell Syndrome (WCS) is a rare congenital syndrome characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse, producing a mechanical abnormality that may contribute to the formation of bronchiectasis distal to the collapsed bronchi.[1 …

Is Kartagener syndrome rare?

Kartagener’s syndrome is a rare genetic disorder. It involves abnormalities of your cilia, which can cause a variety of health problems.