Kartagener's syndrome is a rare genetic lung disorder where there is a defect in the cilia lining the respiratory tract. It occurs in about 1 in 32,000 live births. People with Kartagener's syndrome often have respiratory distress as newborns, excess mucus, and reoccurring chest infections. It was first identified by German physician Manes Kartagener in 1933. Currently there is no cure, but proper treatment and monitoring can lead to a full life expectancy.
2. Kartagener’s syndrome known as “Primary Cilia Dyskinesia.” (1) Rare genetic lung disorder (1) Defect in action of the cilia lining the respiratory tract. (1) Occurs in 1 out of 32,000 live births (2) Not dependant on race, gender or geographic region (2) Introduction
3. K.S. can be diagnosed at any age (5) Cystic Fibrosis & Asthma have similar symptoms (4) 50% of K.S. cases don’t have Dextrocardia (4) K.S. in some animals (Dachshund Dogs). (5) Introduction (cont.)
4. Named after German physician, Manes Kartagener (3) Provided the first hypothesis, and diagnosis (3) Kartagener reported his first case in 1933 (3) 40 cases reported between 1933-1951 (2) History
5. Genetics K.S. is autosomal recessive (2) Individual must inherit 2 copies of the gene (2) Dynein does not occur as strong or at all K k K KK Kk k Kk kk
6. Respiratory distress as a newborn (1) Excess mucus (1) Reoccurring chest infections (4) Loss of hearing (1) Infertility in males (3) Symptoms
7. Often misdiagnosed as ‘atypical’ asthma or cystic fibrosis (1) Left-right mirroring of heart or abnormal organs (1) DNA testing for K.S. is not possible (2) Detected in neonates through ultrasound. (2) Diagnosis
8. When someone has KS, they most likely will have one or more of the following: Swelling of the sinuses (7) Bronchitis (7) More prone to Pneumonia (7) Ear Infections (7) Side Effects
9. Normal X-ray Heart is on the left side (6) Nearly symmetrical diaphragm (6) Somewhat asymmetrical (6)
18. Currently no cure(1) Proper treatment and monitoring can expect full life (1) Chest physiotherapy (4) Long-term and/or reoccurring antibiotic therapy (4) Treatment
