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CASE REPORT Table of Contents  
Ahead of print publication
Kartagener syndrome with pan atopic airway disease


 Department of Respiratory Medicine, TNMC and BYL Nair Ch Hospital, Mumbai, Maharashtra, India

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Date of Submission31-Oct-2021
Date of Decision01-Dec-2021
Date of Acceptance18-Dec-2021
Date of Web Publication21-Sep-2022
 

  Abstract 

Kartagener syndrome (KS) is a rare type of primary ciliary dyskinesia, which comprises a triad of chronic sinusitis, situs inversus, and bronchiectasis. It has a heterogeneous inheritance, mainly inherited as an autosomal recessive disorder, causing functional defect in ciliary movement. Bronchial asthma (BA) is a disease where there is a chronic inflammation of airways along with hyperreactive airways with variable airflow obstruction. We are reporting a case of a 36-year-old man with chronic sinusitis, situs inversus totalis, bronchiectasis, and well-controlled asthma. This case report orients toward the fact that KS can present with BA which makes this case idiosyncratic. Moreover, the veracious takeaway lesson is that early diagnosis will improve the quality of life of the patients and reduce the complexities of the disease, thus will bring down the morbidity and mortality of the patients.

Keywords: Bronchial asthma, Kartagener syndrome, primary ciliary dyskinesia


How to cite this URL:
Aakanksha, Kunjumon SA, Utpat KV, Desai U, Bharmal R. Kartagener syndrome with pan atopic airway disease. APIK J Int Med [Epub ahead of print] [cited 2022 Sep 25]. Available from: https://www.ajim.in/preprintarticle.asp?id=356502



  Introduction Top


The Kartagener syndrome (KS) is an uncommon congenital disorder arising due to genetic mutations causing structural alteration of cilia. Its occurrence is rarely found, 1 in 30,000 live births.[1] This is an incurable syndrome where, symptomatic approach forms the mainstay of primary line of management, which is based on the clinicoradiological evidence that may vary with each patient. The diagnosis of bronchial asthma (BA) is based on the clinical history, physical examinations, and pulmonary function tests. This case calls attention to a unique amalgamation of KS and BA.


  Case Report Top


A 36-year-old male patient, born of nonconsanguineous marriage, nonaddict, presented in our outpatient department with complaints of cough with hemoptysis. The patient was symptomatic since childhood with complaints of predominantly cough with expectoration associated with intermittent hemoptysis, dyspnea on exertion on Modified Medical Research Council Grade 1, and allergic rhinitis with seasonal variation. He was diagnosed with BA during his childhood. In 1994, in view of hemoptysis, he was empirically treated with antituberculosis therapy for 1 year. However, in 2004, in view of persistent symptoms, and sputum acid-fast bacilli smear report was positive for Mycobacterium tuberculosis, for which he was treated with 6 months of antituberculosis therapy. Family history of BA and atopy was present in grandmother. His elder brother suffered with similar symptoms. The patient had a son of 6 years old, born with the help of intrauterine insemination after 3 years of marriage. On chest auscultation, bilateral rhonchi were heard. On cardiovascular examination, the apex beat was felt on the right 5th intercostal space. A chest radiograph revealed cardiac apex and aortic knuckle on the right side, indicated dextrocardia and right side fundic air shadow suggestive of situs inversus [Figure 1]. A high-resolution computed tomography (HRCT) scan of the thorax and abdomen confirmed dextrocardia with right-sided arch and descending thoracic aorta associated with trilobed lung on the left side and bilobed lung on the right side [Figure 3], right-sided spleen, and left-sided liver suggestive of situs inversus totalis [Figure 4]. The varicoid bronchiectasis was noted in the bilateral lower lobes, left-sided middle lobe, and left upper lobe [Figure 2]. A computed tomography of paranasal sinus (CT PNS) showed mucosal thickening of bilateral maxillary sinuses, anterior ethmoidal air cells, and sphenoid sinus with associated hyperostosis noted in the walls of sinus associated with reduced volume of these involved sinuses suggestive of chronic sinusitis [Figure 5]. An ultrasound examination of the abdomen revealed the liver on the left side and the spleen on the right side. An electrocardiogram showed signs of dextrocardia. A two-dimensional echocardiography was consistent with radiography. On spirometry, the ratio of forced expiratory volume in 1 s (FEV1) to forced vital capacity (FVC) was 67% (prebronchodilator) and 70% (postbronchodilator), prebronchodilator value of FEV1 = 2.6 L/min (70%) and FVC = 3.9 L/min (84%); and postbronchodilator value of FEV1 = 2.73 L/min (73%) and FVC = 3.86 L/min (86%) with poor Post – bronchodilator reversibility (PBDR) of 130 ml with 5% change. The maximum peak expiratory flow rate was 7.44 L/min (83%). On clinicoradiological correlation, the spirometry was suggestive of obstructive abnormality with poor post-PBDR most likely BA. Blood investigation was within the normal limit. However, in view of atopy, serum immunoglobulin E (IgE) was 315.6 IU/ml. The patient was admitted and managed with orally administered antibiotics, inhaled corticosteroids (ICSs) and inhaled long-acting beta-agonists (LABAs), and chest physiotherapy with relief of symptoms.
Figure 1: Chest radiography showing dextrocardia

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Figure 2: Computed tomography of the thorax showing axial bronchiectasis (red arrow) on right side

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Figure 3: Computed tomography of the thorax showing bilobed right lung and trilobed left lung

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Figure 4: Computed tomography of the abdomen showing the spleen on the right side (red arrow) and liver on the left side (yellow arrow)

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Figure 5: Computed tomography of paranasal sinus showing mucosal thickening of maxillary sinuses (red arrow) and anterior ethmoidal air cells (yellow arrow) with associated hyperostosis of sinus walls with reduced volume suggested of chronic sinusitis

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  Discussion Top


The pan atopic airway disease (PAAD) hypothesis proposes that the upper and lower airway diseases are both manifestations of a single inflammatory process within the respiratory tract. The synonyms for PAAD include atopic rhinitis and atopic asthma.

BA is a chronic obstructive airway that has an impact on bronchi and the consequences are constriction of bronchi, tightening of the chest, and inflammation of the lower respiratory tract. Based on previous studies, asthma is an allergic condition mediated by T helper cell type 2 which is arbitrated by IgE. The patients are sensitive to dust, pollen, change in the seasons, and other aeroallergens.[2] The symptoms include recurrent episodes of breathlessness, chest tightening, coughing, and wheezing which aggravate during the night. A positive family history of asthma, history of atopy in patients himself or in family, particularly allergic rhinitis, can help in making the clinical diagnosis. To procure objective confirmations of variations of expiratory airflow obstructions, spirometry is the preferred method. It measures parameters of airflow for instance, the FVC that means the maximum volume of air that can be exhaled, and the FEV1. The airflow obstruction can be measured by the ratio of FEV1 to FVC.[3] It cannot measure lung volumes, so pulmonary function tests are required. During the management of asthmatic patients, our main aim is to achieve control of disease to prevent exacerbations and risk reduction of morbidity and mortality. The preferred treatment of choice is the combination of ICSs and LABAs. All patients should follow-up regularly, so that inhaler technique, patient's compliance, and control of asthma can be checked.

KS was first explained by Siewert in 1904,[4] and Kartagener[5] first recognized the clinical triplex of chronic sinusitis, situs inversus, and bronchiectasis as a congenital syndrome in 1933. A genetic mutation at the dynein axonemal intermediate chain 1 and dynein axonemal heavy chain 5 genes, leads to the absence of dynein arms of cilia, which can be affirmed by electron microscopy of nasal or bronchial biopsy sample.[6] The normal framework of cilia is important for the clearance of mucus plugs and rotation and orientation of viscera during the development of embryo. The defects in the action of cilia manifest as above mention clinical triad along with infertility, hydrocephalus, recurrent middle ear infection, anosmia, and retinopathy. KS is an autosomal recessive disorder, where there is strong familial testimony that may appear only in one generation and can involve more siblings.[7]

In our case, there was a family history that disclosed that his elder brother was diagnosed with the heart on the right side by a routine examination, for which further investigation was advised. KS is present in 50% of patients with primary ciliary dyskinesia (PCD). Being subtype of PCD, cystic fibrosis is a common differential of ciliopathy. Therefore, PCD can be differentiated from cystic fibrosis on the basis of clinical presentation of history of meconium ileus at birth, diarrhea, failure to thrive, recurrent respiratory infection, and bronchiectasis.[8] The clinical elements of KS are chronic respiratory tract infection and rhinitis since infancy with one or more features such as situs inversus or dextrocardia in the patients or siblings, atypical asthma, immobile spermatozoa in male, ectopic pregnancy in female, hemoptysis, corneal abnormalities, headache, and ear fullness.[9] The diagnosis is often made incidentally on the basis of clinical history and a basic routine chest radiography. The other investigations such as HRCT of the thorax further confirm malrotation. CT of paranasal sinuses might reveal sinusitis, audiometry, and tympanometry to rule out hearing loss and semen analysis. While treating patients with frequent respiratory tract infection, sinusitis, and bronchiectasis, one must be mindful of the facts of KS. With keen observations, one can diagnose, manage, and counsel patients and thus reducing future complications, avoidable ward admissions, redundant investigations, and irrelevant medications.

This is the first time that we report coexisting KS with BA. While the two chronic respiratory diseases may exist in a synchronized manner, overlapping the spectrum of KS, and might leave the BA undiagnosed.[10]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Tadesse A, Alemu H, Silamsaw M, Gebrewold Y. Kartagener's syndrome: A case report. J Med Case Rep 2018;12:5.  Back to cited text no. 1
    
2.
Yadav R, Gumber D. Bronchial asthma: An unmet disease. Int J Pharm Sci Res 2017;8:1514.  Back to cited text no. 2
    
3.
Ukena D, Fishman L, Niebling WB. Bronchial asthma: Diagnosis and long-term treatment in adults. Dtsch Arztebl Int 2008;105:385-94.  Back to cited text no. 3
    
4.
Siewert AK. Ueber einen fall van bronchiectasie bei einem patienten mito situs inversus viscerum. Berl Klin Wochenschr1904;6:139-41.  Back to cited text no. 4
    
5.
Kartagener M. Zur pathogenese der bronchiektasien. Beitr Klin Tuberk Spezif Tuberkuloseforsch1933;84:73-85.  Back to cited text no. 5
    
6.
Ibrahim R, Daood H. Kartagener syndrome: A case report. Can J Respir Ther 2021;57:44-8.  Back to cited text no. 6
    
7.
Casanova MS, Tuji FM, Yoo HJ, Haiter-Neto F. Kartagener syndrome. Dentomaxillofac Radiol 2006;35:386-9.  Back to cited text no. 7
    
8.
Rugină AL, Dimitriu AG, Nistor N, Mihăilă D. Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. Rom J Morphol Embryol 2014;55:697-701.  Back to cited text no. 8
    
9.
Pandey AK, Maithani T, Bhardwaj A. Kartagener's syndrome: A clinical reappraisal with two case reports. Egypt J Ear Nose Throat Allied Sci 2014;15:271-4.  Back to cited text no. 9
    
10.
Arunabha DC, Sumit RT, Sourin B, Sabyasachi C, Subhasis M. Kartagener's syndrome: A classical case. Ethiop J Health Sci 2014;24:363-8.  Back to cited text no. 10
    

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Correspondence Address:
Unnati Desai,
Department of Respiratory Medicine, TNMC and BYL Nair Ch Hospital, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajim.ajim_118_21



    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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