Kartagener Syndrome
Description
Kartageners syndrome, also known as primary ciliary dyskinesia (PCD), is a rare genetic disorder affecting the cilia, tiny hair-like structures found on the surface of many cells. Cilia play crucial roles in various bodily functions, including the movement of mucus in the respiratory system, the transport of eggs in the fallopian tubes, and the proper positioning of organs during development. In Kartagener syndrome, cilia are either absent or malfunctioning, leading to a wide range of health issues.
Genes Involved
Genes Involved:
Kartagener syndrome is caused by mutations in genes involved in cilia formation and function. Some of the most commonly affected genes include:
- DNAH5
- DNAI1
- DNAI2
- RSPH1
- CCDC39
- CCDC151
- LRRC50
- DRC1
- TXNDC17
- CFAP43
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Respiratory Issues: Frequent respiratory infections, chronic sinusitis, bronchiectasis (widening of the airways), and persistent cough are common.
- Infertility: Both men and women with Kartagener syndrome may experience infertility due to impaired sperm motility in men and problems with egg transport in women.
- Situs Inversus: This is a hallmark of Kartagener syndrome, where the major organs are reversed, such as the heart being on the right side and the liver on the left.
- Other Symptoms: These can include nasal polyps, hearing loss, and recurrent ear infections.
Causes
Causes:
Kartageners syndrome is an inherited genetic disorder. This means that the genes responsible for cilia function are passed down from parents to their children. In most cases, the mutation is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for their child to inherit the condition. However, there are also cases where the mutation occurs spontaneously in a child without a family history of the condition.
Inheritance/recurrence risk
Inheritance or recurrence risk:
If both parents carry the mutated gene, there is a 25% chance for each pregnancy that the child will inherit Kartagener syndrome. If one parent carries the mutation, there is a 50% chance that their child will be a carrier. It is crucial to consult with a genetic counselor to understand the specific inheritance risks for each family.
