Kartagener Syndrome

What is Kartagener Syndrome?

Kartagener Syndrome is genetic, congenital disorder, which affects lungs and also male reproductive organs. In this disease, the cilia, which assisting in transporting mucus in the respiratory tract get affected and may mucous unable to move or move incorrectly. Resulting in this condition cause congestion, infection, and various other complications. In addition, internal organs become completely reversed to mirror image (situs inverses totalis)^1,2,8.

Situs inverses totalis – Heart, Lungs, Stomach, Spleen all are opposite to Normal

Characteristic features

• Situs inversus or visceral transposition
• Anomalous frontal sinuses mean producing swelling of the nasal sinus (sinusitis   and bronchiectasis)
• Primary ciliary dyskinesia (PCD)

Symptoms

Depending upon the main characteristic features of Kartagener Syndrome i.e.,  Primary Ciliary Dyskinesia (PCD) and Situs Inversus, some of the enlisted symptoms are

• Recurrent incidence of respiratory infections

• Chest pain
• Recurrent incidence of sinus infections
• Recurrent incidence of ear infections, especially for children
• Hearing loss in severe middle ear infection or delayed treatment intervention
• Persistent nasal congestion
• Respiratory distress, specifically in newborn
• Brain swelling due to fluid accumulation (Hydrocephalus)
• Complete or partial loss of smelling sensation
• Absence of normal functioning of spleen, which also increases the risk of infection (Asplenia)
• Atypical enlargement of the bronchi that increase the risk of infection
• Productive cough
• Sound of sobbing or SOB
• Fever and chills
• Corneal abnormality
• Infertility

Health-related symptoms do not occur due to Situs Inversus.

Causes

The genetic mutagenic alteration cause Kartagener Syndrome. The genetic mutation takes place due to the encoding of portentous substances present in the structure of gene and that influence function of cilia. The cilia is a hair like structure present in different internal organs, including airway and reproductive organs. The corresponding association of cilia movement with wave-like motions is crucial for normal functioning of definite tissues and organs throughout the body and also for correct positioning of organs in the developing embryo. In maximum cases, heterogeneity causes a wide range of faults in the ultrastructure of cilia and also motility. This interferes with mucociliary clearance.

Absence of Dyenin Arms of Cilia

The genetic mutation leads to the inability of cilia movement (immotile) or incorrect movement (dysmotile) of cilia. Yet now different genes  are identified to cause Kartagener syndrome, among them chromosome 9, 5 and 7 cause morphologic or functional abnormality of cilia.

Usually, the affected individuals are identified at their early age of life, but if the severity is moderate, then may the identification is in the late stage of life.

History

Siewert had first described the different classic features of Kartagener Syndrome, which include bronchiectasis, sinusitis, and situs inversus. But a Swiss pediatrician Manes Kartagener first reported four cases in 1933. and  after that in 1960 other investigator reported 300 cases with classic features of Kartagener Syndrome, including congenital and generalised non-functioning of the cilia. The name of this syndrome is ensuing from the first reported  investigator.

Symptoms

Nose

• Inflammation in nasal mucosa
• Nasal polyps
• Thickening of mucosal layer
• Smell sensation becomes impaired

Ears

• Effusion of middle ear with pulled back of tympanic membrane
• Otitis media recurring
• Bilateral conducting hearing loss
• Thickening of sclerotic septa due to mastoid of air cells are opacified

Lower Respiratory Tract

• Enlargement of bronchial tube (Bronchiectasis)
• Thickening of the bronchial wall
• Expulsion of air become difficult due to due to elasticity of lungs become decreased (hyperinflation)
• Chronic respiratory infection
• Partial inflation of lung
• Obstruction in air passage due to obstructive lung disease

Diagnosis

Different types of imaging tools are applied for diagnosis in Kartagener Syndrome, they are as follows:

• X- Ray of Chest: Initially doctor order to conduct chest X-ray, though this imaging tool does not provide any definite result.
• Lung CT scan: CT scan can help to detect bronchiectasis and infiltrate
• Abdominal ultrasonography and/ or Abdominal CT Scan: This test is conducted for detection of situs inversus totalis
• Cellular histology:  Histopathological analysis or electronic microscopic examining of ciliated epithelium collected from nasal, trachea, and adenoid tissue.
• Analysis of Semen: Evaluation of sperm motility and ultrastructure evaluation of sperm is essential.

Dextrocardia (Heart in Right Side)

Special Tests

• Saccharine test: It is conducted for evaluating the transporting speed of passage of saccharine placed is nasal cavity to nasopharynx
• Audio-logic testing
• Pulmonary function study

Treatment

Kartagener’s syndrome is none curable disease, but it is suggested to consult a doctor. The prescription of provided medicines for Kartagener’s syndrome assists in symptom management and risk reduction of complications.

• Low dose antibiotics for sustain period or vaccination for pneumonia and another respiratory infection is required for control the chronic respiratory and sinusitis related infection.
• Inhaled corticosteroids are also recommended for relieving the symptoms of bronchiectasis.
• Tracheotomy and bronchoscopy intervention, which are considered as “pulmonary hygiene”   may conduct by a cardiopulmonary specialist to suction out mucus from the airways.
• Surgical intervention in lung or lung transplantation is recommended for severe lung damage.

Prognosis

Individual having Kartagener’s syndrome can complete a normal lifespan. But the key factor for improved quality of life and normal survival is to regular consultation with  a doctor and follow the prescribed treatment plan to correctly control patient’s condition.

References

1. John P Bent, (2014); Kartagener Syndrome; Online Available; Retrieve from: http://emedicine.medscape.com/article/299299-overview
2. Sandy Calhoun Rice, (2016); Kartagener Syndrome; Online Available; Retrieve from: http://www.healthline.com/health/kartagener-syndrome#Overview1
3. Laurence Knott, (2014); Kartagener Syndrome; Online Available; Retrieve from: http://patient.info/in/doctor/kartageners-syndrome
4. Kartagener syndrome; Genetic and Rare Diseases Information Center; Online Available; Retrieve from: https://rarediseases.info.nih.gov/diseases/6815/kartagener-syndrome
5. AS Dabhi, SR Chaudhari, PB Thorat, HB Pandya, MC Shah, UN Meswani, PR Vaghela, (2005); Kartagener’s Syndrome: A Triad of Bronchiectasis, Situs Inversus, and Chronic Sinusitis; http://medind.nic.in/jac/t05/i3/jact05i3p241.pdf
6. Stefanie Corradini, Gillian Lieberman; Kartagener’s Syndrome; Harvard Medical School; Online Available; Retrieve from: http://eradiology.bidmc.harvard.edu/LearningLab/respiratory/Corradini.pdf
7. 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.
8. Skeik N, Jabr FI; Kartagener syndrome. Int J Gen Med. 2011 Jan 12;4:41-3. doi: 10.2147/IJGM.S16181.