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At a glance

It is genetically transmitted autosomal dominant disease normally called “Primary Ciliary Dyskinesia” when it only includes the ciliopathic disease. It is characterized by chronic recurrent respiratory infections, sinusitis, bronchitis, pneumonia, and otitis media. However, in the presence of bronchiectasis, situs inversus, and chronic sinusitis, it is known as Kartagener Syndrome. The situs inversus is present only in 50% of primary ciliary dyskinesia cases.

Synonyms

Afzelius Syndrome; Dextrocardia-Bronchiectasis-Sinusitis Syndrome; Immotile Cilia Syndrome, Kartagener Type; Primary Ciliary Dyskinesia (PCD), Kartagener Type; Siewert Syndrome.

History

Genetic disorder first described by Siewert in 1904, but identified as a syndrome by the Swiss internist Manes Kartagener (1897-1975) in 1933.

Incidence

1:32,000 live births. Primary ciliary dyskinesia (PCD), of which Kartagener’s is a subtype, has an incidence of 1:16,000 live births. Only 20 to 25% of patients with situs inversus also have bronchiectasis and sinusitis.

Genetic inheritance

Autosomal recessive trait. The axoneme of cilia contains 200 different proteins, and defects in genes coding for any one of these products could conceivably be responsible for PCD and thus Kartagener Syndrome. Classically, Kartagener Syndrome is caused by mutations in the gene encoding axonemal dynein intermediate chain (DNAI1), which maps to 9p21-p13. Other linkage studies have mapped the phenotype to 19q and 5p in Arabic families. Another mutation causing Kartagener Syndrome has been mapped to the DNAH5 gene (5p15-p14).

Pathophysiology

Kartagener Syndrome is essentially a subtype of an inherited disorder called primary ciliary dyskinesia (PCD), a heterogeneous disease characterized by functionally abnormal cilia that are “dysmotile” or, rarely, absent. Defects of all of the axonemal structures, alone or in combinations, have been identified in association with PCD. Overly long, overly short, and normally appearing, but randomly oriented cilia have been associated with PCD and Kartagener Syndrome. Finally, normal ciliary ultrastructure has been described in patients with the clinical picture of Kartagener Syndrome. Lack of dynein arms, which are structures that form temporary cross-bridges between adjacent ciliary filaments and are believed to be responsible for generating movement in cilia and sperm tails, remains the most common defect identified (Type 1) and the one classically associated with Kartagener Syndrome. Cilia of the respiratory tract and sperms are dysmotile or nonfunctional. It is also postulated that normal visceral asymmetry is determined by movement of cilia in certain embryonic epithelial tissues. The failure of embryonic cilia to function normally results in situs inversus.

Diagnosis

The most important historical fact is the onset of upper and lower respiratory tract symptoms shortly after birth in the presence of situs inversus. Family history of PCD or Kartagener Syndrome is very helpful, but the diagnosis may require examination of ciliary ultrastructure. To confirm the diagnosis, biopsy of respiratory mucosa or microscopic examination ...

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