Medical Journal of Dr. D.Y. Patil Vidyapeeth

CASE REPORT
Year
: 2012  |  Volume : 5  |  Issue : 2  |  Page : 158--160

Kartagener's syndrome


Pradip V Potdar1, Mitali M Nayak1, Aushutosh Chitnis2,  
1 Department of Respiratory Medicine, MGM Medical College, Kamothe, Navi Mumbai, India
2 Department of Radiology, MGM Medical College, Kamothe, Navi Mumbai, India

Correspondence Address:
Pradip V Potdar
Department of Respiratory Medicine, MGM Medical College, Kamothe, Navi Mumbai
India

Abstract

Bronchiectasis may have varied etiologies. In patients presenting in middle or old age with bronchiectasis, congenital and hereditary causes of bronchiectasis are not commonly encountered. In majority of adult patients, bronchiectasis follows necrotizing infection. We report a case of Kartagener«SQ»s syndrome in a female patient diagnosed in her sixties.



How to cite this article:
Potdar PV, Nayak MM, Chitnis A. Kartagener's syndrome.Med J DY Patil Univ 2012;5:158-160


How to cite this URL:
Potdar PV, Nayak MM, Chitnis A. Kartagener's syndrome. Med J DY Patil Univ [serial online] 2012 [cited 2020 May 26 ];5:158-160
Available from: http://www.mjdrdypu.org/text.asp?2012/5/2/158/103349


Full Text

 Introduction



Kartagener's syndrome (KS) is a ciliopathic, autosomal recessive disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. It is characterized by a triad of situs inversus of the viscera, sinusitis, bronchiectasis, and ciliary dysfunction. It is also known as Afzelius syndrome, Kartagener's triad, Zivert's syndrome, or Zivert-Kartagener triad.

Zivert [1] first described the combination of situs inversus, chronic sinusitis, and bronchiectasis in 1904. Manes Kartagener [2] first recognized this clinical triad as a distinct congenital syndrome in 1933. As Kartagener described this syndrome in detail, it bears his name.

 Case Report



A 60 year old female from interior rural Maharashtra presented to our institute with productive cough and dyspnea for the last 8 to10 years. She had no past medical records. On enquiry, she revealed that she was also suffering from hearing loss. She had 3 children. There was no history of hemoptysis, pedal edema and paroxysmal nocturnal dyspnoea. Neither was there history of hospitalization, nor anytime had she come under institutional medical care. On examination, she was mildly breathless but otherwise in good health. There was no clubbing, cyanosis, pallor, icterus, lymphadenopathy, edema feet, or raised JVP. On examination of the respiratory system, medium-coarse crackles in infra-axillary, infrascapular areas were bilaterally present. There was diffuse wheeze bilaterally. Cardiovascular examination revealed dextrocardia with apex impulse on right side. Heart sounds were best heard on right side. There was no evidence of pulmonary hypertension clinically.

CBC revealed normal counts, PCV was not raised. Routine biochemical tests including liver, renal function tests were normal. Sputum culture grew Klebsiella pneumoniae.

Chest x-ray revealed dextrocardia [Figure 1], bronchial wall thickening, fibrosis and cystic changes in right lower zone and left lower zone. HRCT chest confirmed cystic and cylindrical bronchiectasis involving lower lobes, middle lobe and the lingual [Figure 2]a, b. Situs inversus was also confirmed in the form of dextrocardia, liver and IVC on the left side and the stomach, spleen, and aorta on the right side [Figure 3] and [Figure 4]. CT paranasal sinuses showed bilateral maxillary and right sphenoidal sinusitis [Figure 5].{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}

USG abdomen showed situs inversus.

Audiometry revealed right severe, left moderately severe mixed-sensorineural hearing loss. Pulmonary function test revealed mild obstructive and restrictive impairment.

ECG revealed features of dextrocardia in the form of marked right axis deviation of the P wave (negative in aVL and lead 1) and of the QRS complex. Low voltage of QRS complex was evident in precordial leads, V4 through V6. Lead aVR was similar to the normal aVL in the normal ECG.

Echocardiography confirmed all cardiac chambers and valves structurally normal, IAS, IVS intact and no RWMA. There was no evidence of pulmonary hypertension. Saccharine test revealed transit time of 1 hour 14 minutes. Ciliary function studies were not performed due to non-availability. The patient received inhaled bronchodilators, steroids and systemic antibiotics. She was taught postural drainage. The diagnosis of KS was explained to the patient and her relatives.

 Discussion



KS is a congenital ciliary disorder inherited via autosomal recessive pattern and symptoms result from defective ciliary motility. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000 [3]

Camner and et al. [4] first suggested ciliary dyskinesia as the cause of KS in 1975. They described two patterns with KS who had immotile cilia and immotile spermatozoa. Later, Afzelius [5] discovered that bronchial mucosal biopsy specimens from patients with respiratory complaints showed cilia that appeared abnormal, were poorly Mobile, and were missing dynein arms. In 1977, Eliasson et al. [6] used the descriptive phase "Immotile cilia syndrome" to categorize male patients with sterility and chronic respiratory infection. In 1981, Rossman et al. [7] coined the term primary ciliary dyskinesia (PCD) because some patients with KS had cilia that were not immobile but exhibited uncoordinated and inefficient movement pattern. Current nomenclature classifies all congenital ciliary disorders as PCD in order to differentiate them from the acquired types. KS is a part of a larger group of disorders referred to as PCD. Approximately one half of patients with PCD have situs inversus and are thus, classified as having KS. Normal ciliary beating is necessary for visceral rotation during embryonic development. In patients with PCD, organ rotation occurs as a random event, therefore half of the patients have situs inversus and other half have normal situs. Abnormal ciliary motility results in general impairment of respiratory defense mechanism causing recurrent upper and lower respiratory tract infections.

In abnormalities of cilia, structural abnormalities of dynein arms are the most common [8] although abnormalities of the radial spokes and microtubules can also account for the condition. In rare cases no structural ciliary abnormality is detectable even though the ciliary function is abnormal and the clinical syndrome is typical. [9],[10] Patients with KS may have either situs solitus, i.e. dextrocardia only or situs inversus totalis where all the viscera are on the opposite side [11] including left-sided appendix [12]

Electron microscopic analysis of the ultra structure of the cilia can complete the diagnostic workup of the patient. However, it needs invasive procedures like biopsies from nasal mucosa or trachea. Also, chronic infection may damage cilia, resulting in non-diagnostic findings. Amongst other diagnostic methods, only the "Saccharine test" is the one which can be performed easily. The saccharine test is an inferential test of ciliary dysfunction. [13] A small tablet of the artificial sweetener is placed below the anterior terminus of the inferior nasal turbinate and the patient's head is maintained in a level, upright position. In normal individuals, the ciliated epithelium of the mucosa propels the dissolved saccharine back to the oropharynx, where it is perceived by the taste buds. The transit time is normally less than 60 minutes. In our patient, the transit time was 1 hour 14 minutes, consistent with abnormal ciliary function.

References

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