Edit concept Question Editor Create issue ticket

Kartagener Syndrome

PCD

The Kartagener syndrome is an autosomal recessive condition characterized by primary ciliary dyskinesia, abnormal frontal sinuses and situs inversus.


Presentation

Neonatal respiratory distress occurs in many cases. Some of the respiratory symptoms presented include chronic rhinitis, reduced sense of smell and chronic rhinorrhoea that begins from early childhood. Otitis media is recurrent in many cases [7].

Chronic obstructive pulmonary disease (COPD) and bronchiectasis as well as recurrent pneumonia are all components of this syndrome.

The condition may bring about male infertility due to immobile spermatozoa as well as decreased fertility in females.

Turkish
  • In this study, we report a consanguineous family of Turkish origin, composed of two unaffected parents and three children, two of whom presented Kartagener syndrome.[ncbi.nlm.nih.gov]
Tonsillar Hypertrophy
  • Obstructive sleep apnoea secondary to adeno-tonsillar hypertrophy is also not a typical association with PCD.[adc.bmj.com]
Epistaxis
  • The brushing causes minor discomfort, and very occasionally, minor epistaxis. The sample may be taken by an appropriately trained paediatrician in a general hospital, and sent by courier to the NCG centre, by prior arrangement.[adc.bmj.com]

Workup

X-Ray studies may reveal lung over-inflation, thickening of the bronchial wall and peribronchial infiltrates and dextrocardia. Right sided heart disease with chronic respiratory tract symptom is very indicative and it occurs in more than half of patients [8].

CT scan will reveal bronchiectasis and also demonstrate involvement of paranasal sinuses poorly aerated mastoids and absence of frontal sinuses.

Transmission electron microscopy of the cilia from an airway biopsy needs to be examined for ciliary movement, coordination, beat frequency and amplitude. This biopsy has been useful in the past in the diagnosis of two newborns. The absence or decrease in the number of dynein arms is the most common ultrastructural defect noted here. Transmission electron microscopy is very important when it comes to differentiating between primary and ciliary dysfunction.

In postpubertal males, semen analysis will reveal abnormal sperm motility and ultrastructure.

In pragmatic difficulties, the saccharin test may be used. The saccharin is placed in the nose while measuring the speed of transportation to the nasopharynx.

Nephrolithiasis
  • Dysfunction of the axonemal structure has been linked to the emerging class of disorders collectively known as ciliopathies, which includes PCD/Kartagener syndrome, Bardet-Biedl syndrome, hydrocephalus, polycystic kidney disease, polycystic liver disease, nephrolithiasis[emedicine.com]

Treatment

Intravenous, oral, intermittent or continuous antibiotics are used in the treatment of upper and lower airway infections. The most common organisms inhibited by the antibiotics are Staphylococcus aureus and Haemophilus influenzae. In some children, long term low-dose prophylactic antibiotics may be necessary.

Obstructive lung disease or bronchiectasis should be treated with mucolytics, chest physiotherapy bronchodilators and inhaled bronchodilators. Although the effectiveness of deoxyribonuclease and other mucolytic agents like hypertonic saline has not been fully assessed, it may be worth trying in some patients with persistent respiratory symptoms or recurrent infections.
There may equally be use for inhaled antibiotics and inhaled/oral corticosteroids even though the evidence base is still anecdotal.

Influenza and pneumococcal vaccination has to be encouraged as well.

Conductive hearing loss and recurrent infections can be reduced with tympanostomy tubes. Repeated insertions may be required and chronic suppurative otitis media may present as complication. In some cases, topical and systemic antibiotic therapy, otomicrosopy, acetic acid irrigations and other aural hygiene measures may be needed [9].

A transient improvement in upper and lower respiratory tract symptoms can be induced by endoscopic sinus surgery and the formation of a nasal antral window underneath the inferior turbinate.

For associated bronchiectasis lobectomy may sometimes be required. In severe cases, lung transplantation and heart lung transplantation have been tried occasionally in many cases with some degree of success [10].

Prognosis

Treatment with antibiotics, physiotherapy, and the right surgical intervention means that prognosis in patients with this syndrome have improved greatly. In most cases, lifespan is normal.

However, early diagnosis is vital because as soon as bronchiectasis is fully established, prognosis worsens [6].

Etiology

The Kartagener syndrome is made up of the following triad: primary ciliary dyskinesia, abnormal frontal sinuses (bringing about bronchiectasis and sinusitis) and situs inversus (transposition of the viscera) [2].

When the defective cilia lining the respiratory tract is unable to clear the airways of secretions as well as pathogenic bacteria, mucus retention and recurrent or chronic infection of the respiratory tract results leading to the airway walls’ damage. Generally, over 50% of patients with primary ciliary dyskinesia (PCD) have the complete triad of the Kartagener syndrome. In some cases, hearing loss and retinitis pigmentosa is recorded [3].

Studies have shown that visceral rotation in the embryo is dependent on normal ciliary action thus the association between situs inversus abnormality and primary ciliary dyskinesis.

Epidemiology

The incidence of this genetic disorder is 1 in every 32,000 births. However, there have been cases of higher incidences in communities where consanguineous marriages are relatively common [4].

Sex distribution
Age distribution

Pathophysiology

The disease is one that is genetically inherited. Structures that make up the cilia such as the inner and outer dynein arms, radial spokes, central apparatus etc. are either missing or dysfunctional and therefore the axoneme structure lacks the ability to move. Axonemes are the elongated structures that make up the flagella and cilia [5]. Additionally, there may be chemical defects that will interfere with ciliary function in the presence of adequate structure. Regardless of the underlying cause, the dysfunction of the cilia begins and as well as affects the embryologic phases of human development.

At the heart of this problem are specialised monocilia. These often lack the central-pair microtubules seen in ordinary motile cilia and therefore they rotate clockwise instead of beating in Hensen's node at the anterior end of the primitive streak in the embryo, these are angled posteriorly such that they prescribe a D-shape rather than a circle.

However, in some individuals with the condition, mutations believed to be in the gene coding for the key structural protein- left right dynein result in monocilia and these do not rotate. This therefore brings about no flow in the node. 50% of individuals affected develop situs inversus which can happen with or without dextrocardia, where the laterality of the internal organs is the replica of normal.

Prevention

The condition is genetic so the only way to prevent it is to ensure adequate genetic counselling to prevent birthing children with the condition.

Summary

The Kartagener syndrome (KS) is an autosomal recessive inherited syndrome. Multiple ciliopathies result following genetic defects in the structure and function of sensory and motile cilia [1]. Many structural defects of the cilia have been recorded but a reduction in the number of dynein arms, (arms which propel mucus) is a common abnormality. Patients that have normal cilia morphology but abnormal mucus propulsion have been detected on many occasions and this is why both the ciliary structure as well as motility has to be assessed during diagnosis of the syndrome.

Patient Information

Kartagener syndrome is a genetic defect affecting the respiratory tract. When present, it stops the respiratory tract from automatically getting rid of mucus secretion and also pathogenic bacteria. The disease is seen in 1 out of 32,000 live births

Treatment is mostly with the aid of antibiotics and is often very successful.

Many patients in the past have gone on to live and enjoy normal lives following adequate treatment. The positive prognosis means that this condition, though problematic, can be recovered from as long you co-operate with the right medical practitioners. 

References

Article

  1. Ul Hassan A, Hassan G, Khan SH, et al; Ciliopathy with special emphasis on kartageners syndrome. Int J Health Sci (Qassim). 2009 Jan;3(1):65-9.
  2. Zariwala MA, Knowles MR, Omran H; Genetic defects in ciliary structure and function. Annu Rev Physiol. 2007;69:423-50.
  3. Ciliary dyskinesia, primary, 1, CILD1; Online Mendelian Inheritance in Man (OMIM), 2013
  4. Krawczynski MR, Witt M; PCD and RP: X-linked inheritance of both disorders? Pediatr Pulmonol. 2004 Jul;38(1):88-9.
  5. Chuhwak EK; Kartagener syndrome in a Nigerian African--a case report and literature review. Niger J Med. 2009 Oct-Dec;18(4):424-7.
  6. Corkey CW, Levison H, Turner JA. The immotile cilia syndrome. A longitudinal survey. Am Rev Respir Dis 1981; 124:544.
  7. Kollberg H, Mossberg B, Afzelius BA, et al. Cystic fibrosis compared with the immotile-cilia syndrome. A study of mucociliary clearance, ciliary ultrastructure, clinical picture and ventilatory function. Scand J Respir Dis 1978; 59:297.
  8. Afzelius BA. A human syndrome caused by immotile cilia. Science 1976; 193:317.
  9. Afzelius BA, Mossberg B, Bergström SE. Immotile-cilia syndrome (primary ciliary dyskinesia) including Kartagener syndrome. In: The Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, Vale D (Eds), McGraw Hill, New York 2000.
  10. Afzelius BA, Stenram U. Prevalence and genetics of immotile-cilia syndrome and left-handedness. Int J Dev Biol 2006; 50:571.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-07-11 21:15