Immotile cilia syndrome
Immotile cilia syndrome (ICS), also known as Kartagener syndrome, is a rare, genetic disorder characterized by the malfunction of certain cellular structures known as cilia. This condition is a type of primary ciliary dyskinesia (PCD), a group of disorders that also involve cilia dysfunction.
Overview[edit | edit source]
Cilia are tiny, hair-like structures that line the surfaces of many cells in the body. They play a crucial role in various bodily functions, including the movement of mucus in the respiratory tract and the proper functioning of the reproductive system. In individuals with immotile cilia syndrome, the cilia are either immobile or their movement is impaired, leading to a range of health problems.
Symptoms[edit | edit source]
The symptoms of immotile cilia syndrome can vary widely among affected individuals. Common symptoms include chronic sinusitis, bronchitis, and pneumonia, due to the inability of the cilia to clear mucus and bacteria from the respiratory tract. Other symptoms can include infertility, due to the role of cilia in the reproductive system, and situs inversus, a condition in which the internal organs are mirrored from their normal positions.
Causes[edit | edit source]
Immotile cilia syndrome is caused by mutations in various genes that are involved in the formation and function of cilia. These mutations are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.
Diagnosis and Treatment[edit | edit source]
Diagnosis of immotile cilia syndrome typically involves a combination of physical examination, medical history, and specialized tests, such as a nasal nitric oxide test or a ciliary biopsy. Treatment is usually focused on managing the symptoms and preventing complications, and can include physiotherapy, medication, and in some cases, surgery.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Immotile cilia syndrome is a rare disease.
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