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Tuesday 22 March 2011

Kartagener Syndrome

Kartagener Syndrome is a recessive autosomal disease. This causes a defect of the cilia lining in the respiratory tract as well as the fallopian tubes in women. Patients with Kartagener Syndrome present chronic inflammation of the nasal passages usually causes by an upper respiratory infection. Another chronic inflammation is the ear passages and gives the middle ear an infection. Pneumonia and bronchiectasis which is widening on the air passages and causes them to become flappy and scarred. Diagnostic test can be done to prove the impaired cilia fuctions and genetic test. In severe cases the likely outcome can fatal if the bilateral lung transplant is delayed. In this case of a 66 year old women is chronic reoccuring upper respriatory infections, pneumonia and bronchiectasis, was also presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on genetic studies and clinical presentation. This lady passed away on a ventilator with refractory respiratory and multiorgan failure. This lady denied chest pains, nausea, vomiting, urinary symptoms and headaches. Once a physical exam was done, it showed this elderly lady was in moderate respiratory distressed. She also had two sister who died of chronic progressive lung disease.

Megan Rutherford
Bio-305-B

3 comments:

  1. Did the researchers/publishers of this article name any specific genes or DNA sequences that cause this disease or that can be found to determine a woman's predisposition to the disease?

    -H. Mayer

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  2. To H. Mayer. I actually found a link to your question.

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564509/

    Kartagener syndrome gene is found in a 3.5 cM region on chromosome 15q24–25.

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