Kartagener's syndrome

Classification according to ICD-10
Q34.8	primary ciliary dyskinesia
Q89.3	Situs inversus
ICD-10 online (WHO version 2019)

Situs inversus in Kartagener syndrome on a CT scan of the chest: the heart is on the right

Abdominal view of the same patient: the liver can be seen on the left

The Kartagener syndrome , also known as the Kartagener triad , is a congenital syndrome with inverted position of the internal organs ( situs inversus ), bronchiectasis and underdevelopment or non-development of the paranasal sinuses and mastoid cells as well as nasal polyps , accompanied by chronic polyposis of the paranasal sinuses ( sinusitis ). The movement of the ciliated epithelium (the cilia ) in the airways is disturbed. In addition, the sperm may have a reduced fertility (because of a possible movement disorder fertility are available). Diseases without a situs inversus are called primary ciliary dyskinesia (PCD) .

The disease is named after the internist Manes Kartagener (1897–1975), who was a member of the teaching staff at the Medical Faculty in Zurich , who was particularly dedicated to researching bronchiectasis and who had described the syndrome in 1933.

Occurrence

The frequency ( prevalence ) is 1: 15,000 to 20,000. There are around 4,000 patients in Germany , around 900 of whom are children and adolescents.

Etiology (cause of disease)

PCD and Kartagener syndrome are congenital diseases. They are inherited as an autosomal recessive trait: children only develop the disease if they inherit an altered gene from each parent . A gene location was localized on chromosome 5 and the responsible genes ( DNAH5 and DNAH11 code for subunits of the Dynein complex) were identified. The cilia ( cilia ) of the epithelium of the respiratory tract ( nasal , bronchial tubes , and lungs ) are due to a lack subunit, which for the mobility of the motor protein dynein microtubule , provides damaged. Due to the lack of mucus transport, these organs are not cleaned and chronic inflammation occurs.

Complaints and symptoms

Even the infant has a noticeable cough. This leads to recurrent infections of the upper and lower respiratory tract, including the paranasal sinuses ( sinusitis ). Middle ear infections (otitis media) are also common.

Due to the constant infections, bulges form on the bronchi ( bronchiectasis ). Even coughing up blood may occur later - similar to cystic fibrosis  - a lack of oxygen ( hypoxia ) with typical signs (inefficiency or clubbing with Uhrglasnägeln ) and as a consequence of pulmonary hypertension and right heart failure .

Since the movement of the cilia in the fallopian tubes is also disturbed, there is an increased number of women with ectopic pregnancies .

Diagnostics (disease detection)

In cases without a situs inversus, the disease is not easily recognized. In the air of the nasal cavity , nitrogen monoxide (NO) can be measured as a search test , which is even more reduced in PCD than in cystic fibrosis . In severe chronic forms of bronchitis and sinusitis, extensive examinations must be carried out to confirm the diagnosis of PCD. In particular, the following are available at appropriately equipped centers:

• electron microscopic examination of a tissue sample ( biopsy )
• Ciliary beat analysis
• Antibody detection of the DNAH5 gene

About a third of cases are only recognized in adulthood.

therapy

The treatment essentially corresponds to the procedure for chronic bronchitis or sinusitis (physical therapy, mucus solution, antibiotics , polyp removal, etc.)

PCD and Kartagener's syndrome in animals

PCD also occasionally occurs in domestic dogs , with a situs inversus, i.e. Kartagener's syndrome, being observed in around half of the cases. More commonly affected dog breeds are the English Springer Spaniel , Bobtail , Shar Pei, and Bichon Frisé . Cats are very rarely affected.

Symptoms can be mild and worsen with age. Typical complaints are persistent mucous-purulent nasal discharge, productive cough, decreased performance and dyspnoea . The therapy is symptomatic as in humans.

Snail kings develop their oppositely rotated shell and simultaneously occurring situs inversus for the same reason (missing subunit of the motor protein dynein, movement disorder of the cilia).

See also

• Kartagener Syndrome & Primary Ciliary Dyskinesia (Association)

Literature on the history of the syndrome

• Stefan Schriml: Studies on the history of the Kartagener syndrome and the Immotile-Cilia syndrome. Medical dissertation Würzburg 1991.

Web links

• Kartagener's syndrome.  In: Online Mendelian Inheritance in Man . (English)
• Federal Association KS & PCD e. V.

Individual evidence

1. ^ Pschyrembel. Clinical Dictionary. 255th edition. De Gruyter, Berlin / New York 1986, ISBN 3-11-007916-X , p. 834.
2. ↑ Manes Kartagener: Bronchiectasis with situs inversus. In: Arch Pediatr. , Volume 79, June 1962, pp. 193-207, PMID 14454074 .
3. ↑ Manes Kartagener: On the pathogenesis of bronchiectasis. I. Bronchiectasis in situs viscerum inversus. In: Beitr. Klin. Tbk. , Volume 83, 1933, pp. 489-501.
4. ↑ H. Olbrich, K. Häffner u. a .: Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left − right asymmetry. In: Nature Genetics , Volume 30, 2002, pp. 143-144, PMID 11788826 .
5. ↑ H. Omran: Genetic Defects in Primary Ciliary Dyskinesia. In: Monthly Pediatric Medicine , Volume 3, 2005, pp. 246-254.
6. ↑ T. Wodehouse, SA Kharitonov, IS Mackay, PJ Barnes, R. Wilson, PJ Cole: Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. In: Eur Respir Journal , Volume 21, January 2003, pp. 43-47, PMID 12570107 .
7. ↑ DF Edwards, CS Patton, JR Kennedy: Primary ciliary dyskinesia in the dog. In: Problems in veterinary medicine , Volume 4, 1992, PMID 1643316 .
8. ↑ Kartagener Syndrome on helix-pomatia.de

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