CASE SERIES |
https://doi.org/10.5005/jp-journals-11010-1107 |
Case Series of Kartagener Syndrome: A Rare Genetic Disorder with Variable Pulmonary Presentation
1Department of Respiratory Medicine, Velammal Medical College Hospital and Research Institute, Madurai, Tamil Nadu, India
2–5Department of Respiratory Medicine, Velammal College of Allied Health Sciences, Madurai, Tamil Nadu, India
Corresponding Author: Anand R, Department of Respiratory Medicine, Velammal Medical College Hospital and Research Institute, Madurai, Tamil Nadu, India, Phone: +91 9524108802, e-mail: dranandrajendran1994@gmail.com
Received: 09 November 2023; Accepted: 30 April 2024; Published on: 18 June 2024
ABSTRACT
Kartagener syndrome (KS) is a rare autosomal recessive genetic disorder characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. This case series presents three unique cases of this rare entity—a middle-aged man with secondary spontaneous pneumothorax, a case of a young female with infertility, and a third of an infertile middle-aged female with type 2 respiratory failure. We also highlight the importance of KS with varied clinical presentation, diagnostic challenges, and management strategies in different patients.
How to cite this article: R A, M T, Rashmi ML, et al. Case Series of Kartagener Syndrome: A Rare Genetic Disorder with Variable Pulmonary Presentation. Indian J Respir Care 2024;13(2):136–139.
Source of support: Nil
Conflict of interest: None
Patient consent statement: The author(s) have obtained written informed consent from the patient(s) for publication of the case report details and related images
Keywords: Bronchiectasis, Case report, Immotile cilia, Infertility, Kartagener syndrome, Pneumothorax
INTRODUCTION
Kartagener syndrome (KS) is a subset of primary ciliary dyskinesia (PCD), a group of inherited disorders affecting ciliary motility. It is characterized by situs inversus (reversed positioning of organs), chronic sinusitis, and bronchiectasis. This case series aims to shed light on the specific respiratory complications associated with KS in the Indian population, given the limited literature available on this subject in the Indian context.
CASE SERIES
Case 1
A 40-year-old male, presented to the emergency department with a sudden onset of breathlessness worsening cough, and left-sided pleuritic chest pain for the past 1 day. Clinical examination revealed a heart rate of 120 beats per minute, tachypnoea with a respiratory rate of 25 per minute, room air saturation of 85% with left hyperresonant lung field, and diminished air entry on auscultation. Other system examinations were normal. A high-resolution computed tomography (HRCT) scan of the thorax done at the outside hospital before admission showed a left-sided pneumothorax with bilateral bronchiectasis, primarily affecting the lower lobes along with features of situs inversus (Fig. 1C). Chest X-ray done at the emergency showed left-sided pneumothorax with lung collapse and mediastinal shift to the opposite side (Fig. 1A); hence, immediate intercostal drain (ICD) insertion with the underwater seal was performed. Postprocedure the patient’s clinical condition improved significantly with improved oxygenation of 95% at room air. Blood routines were normal except for mild leukocytosis (total white blood cell count—12500 cells/mm3). He later revealed that he had a history of chronic sinusitis, and recurrent respiratory infections since childhood. He got married 12 years ago had infertility issues and finally had a baby with assisted reproductive technology (in vitro fertilization). His old seminal fluid analysis showed azoospermia. Serum total immunoglobulin E (IgE) levels and skin prick tests were negative. A 72-hour post-ICD insertion, the repeat chest X-ray (Fig. 1B) showed complete lung expansion, and the ICD tube was removed. Spirometry revealed an obstructive pattern. Based on the clinical and radiological findings, KS was diagnosed. The patient was managed with intravenous antibiotics, nebulized bronchodilators, and chest physiotherapy during his hospital stay. He was discharged with inhalational corticosteroids (ICS) plus long-acting β-agonists (LABA) combination therapy and advised to have regular follow-ups to monitor disease progression.
Figs 1A to C: (A) Anterior–posterior view of the chest taken in the emergency department, demonstrating left-sided pneumothorax with lung collapse; (B) Anterior–posterior view of the chest showed complete lung expansion post-ICD insertion; (C) HRCT thorax—lung window showed left-sided pneumothorax with bilateral lower lobe bronchiectasis with bilateral emphysematous changes and situs inversus
Case 2
A 23-year-old female was referred to our department from the fertility clinic with a history of infertility and recurrent respiratory tract infections since childhood. She had been trying to conceive for 3 years without success. The patient reported regular menstrual cycles, with normal menarche at 13. She had never been pregnant and had not used any form of contraception. Medical history revealed recurrent sinus infections and hospital admissions during her childhood for respiratory tract infections. Physical examination showed no obvious anomalies, and her body mass index was within the normal range. Chest X-ray showed features of dextrocardia, right lower zone minimal ectatic changes, and situs inversus with fundus shadow on the right side and liver on the left (Fig. 2A). X-ray paranasal sinus (PNS) showed opacification of the bilateral maxillary sinus (Fig. 2B). HRCT thorax also revealed features of situs inversus, dextrocardia, and right lower lobe bronchiectasis changes (Fig. 2C). Based on the clinical presentation of sinusitis, bronchiectasis, infertility issues, and situs inversus a clinical diagnosis of KS was made. Further evaluation including hormonal assessment, revealed normal levels of follicle-stimulating hormone, luteinizing hormone, and anti-Müllerian hormone. Transvaginal ultrasound and hysterosalpingography showed normal ovarian morphology, a patent uterine cavity, and bilateral fallopian tube patency. The semen analysis of her partner was within normal parameters. She was advised to follow bronchial hygiene maneuvers with periodic hospital visits to monitor her disease progression and more emphasis was given to cyclical antibiotics, postural drainage, and chest physiotherapy. Family counseling was also given for assisted reproductive techniques and she was referred to a clinical embryologist for conception.
Figs 2A to C: (A) Chest X-ray posteroanterior (PA) view revealed features of dextrocardia, right lower zone minimal ectatic changes, and situs inversus with fundus shadow on the right side and liver on the left; (B) X-ray PNS showing opacified bilateral maxillary sinus; (C) Axial section of computed tomography (CT) chest lung window showing bilateral bronchiectasis (right-sided more than left) and right lower lobe atelectasis with mucous impaction
Case 3
A 56-year-old nonsmoking female came to the emergency department with a 2-week history of progressively worsening dyspnea, cough, and purulent sputum production. She reported a lifelong history of recurrent respiratory infections since childhood with no significant family history of respiratory illnesses. Physical examination revealed hypoxemia with an oxygen saturation of 88% on room air, respiratory rate of 30/minute, heart rate of 110/minute, and bilateral coarse crackles on auscultation with pandigital clubbing. Arterial blood gas analysis confirmed type 2 respiratory failure with a pH of 7.27, a PaCO2 of 68 mm Hg, and a PaO2 of 48 mm Hg. The patient was started on bilevel positive airway pressure (BiPAP) ventilation. Her medical history included recurrent sinus infections and chronic otitis media. She got married at the age of 23 and had infertility issues. Her blood routine was normal except for polycythemia (Hb—17 gm) with leukocytosis (total count—17,500 cells/mm). Chest X-ray revealed bilateral lower zone cystic changes, dextrocardia, a right-sided fundus shadow, and situs inversus (Fig. 3A). HRCT of the chest demonstrated widespread bronchiectasis, predominantly in the lower lobes (Fig. 3B). She was treated with intravenous antibiotics, nebulized bronchodilators, chest physiotherapy, along with positive pressure ventilation. Sputum acid-fast bacilli (AFB) smear-negative; sputum culture sensitivity showed Pseudomonas aeruginosa, which was sensitive to fluoroquinolones. Total IgE and skin prick tests were negative. Repeat ABG showed compensatory type 2 respiratory failure with a pH of 7.36, a PaCO2 of 50 mm Hg, an HCO3 of 34 mEq/L, and a PaO2 of 68 mm Hg. Spirometry done before discharge revealed an obstructive pattern. She improved clinically with intravenous antibiotics: postural drainage and chest physiotherapy. Based on the clinical and radiological findings, KS was diagnosed. Finally, after 15 days of hospitalization, she was discharged on inhalational bronchodilators (ICS plus LABA) and overnight BiPAP and was advised to review on an outpatient basis for monitoring disease progression and yearly vaccination.
Figs 3A and B: (A) Chest X-ray PA view revealed features of dextrocardia, bilateral mid and lower zone minimal cystic changes, and situs inversus with fundus shadow on the right side and liver on the left; (B) Axial section of CT chest lung window showing bilateral extensive bronchiectasis with mucous impaction and situs inversus
DISCUSSION
Kartagener syndrome is a subset of PCD, a rare autosomal recessive disorder characterized by abnormalities in the structure and function of cilia, which leads to a wide range of clinical manifestations. The most well-recognized presentation of KS involves recurrent respiratory infections, chronic sinusitis, and bronchiectasis. The dysfunctional cilia in the respiratory epithelium impair mucociliary clearance, resulting in the accumulation of mucus and pathogens in the airways.1 Our first case highlights one of the rarer respiratory complications of KS, where a male patient presented with chronic sinusitis, dextrocardia, pandigital clubbing, and male infertility presented with secondary spontaneous pneumothorax.2 KS can present with infertility in both males and females due to ciliary dysfunction in the fallopian tubes, impairing the transport of gametes.3 In our third case, a middle-aged infertile female patient presented with type 2 respiratory failure and a history of recurrent childhood infections, demonstrating that KS can have varied pulmonary presentation.4 Genetic testing was not done in all three patients and the diagnosis was made on the clinical and radiological background. Due to its variable presentation, KS can be challenging to diagnose. Patients with subtle symptoms, such as female infertility without overt respiratory issues, may not immediately raise suspicion for KS. This underscores the need for a high index of clinical suspicion and genetic testing for confirmation. Diagnosis is often confirmed by assessing the ciliary motility by identifying the ultrastructural defects of the dynein arms in bronchial brushing or nasal brushing samples using electron microscopy.5 The management of KS involves a multidisciplinary approach. Treatment strategies aim to alleviate symptoms, reduce the frequency of respiratory infections, and address fertility issues. Therapies may include antibiotics, airway clearance techniques, and, in some cases, assisted reproductive technologies.6 Given the autosomal recessive inheritance pattern of KS, genetic counseling is essential for affected individuals and their families. Identifying carriers and providing information on the risk of recurrence in future pregnancies is crucial.7 Timely diagnosis and intervention are crucial to improving the quality of life for patients with KS. Prognosis can be improved by chest physiotherapy and aerobic exercise programs in addition to vaccination strategies and bronchial hygiene to prevent future exacerbations in these subgroups of patients.8
CONCLUSION
This case series highlights the three different clinical presentations of KS. Timely recognition, diagnosis, and a multidisciplinary approach to management are crucial for improving the quality of life for individuals affected by KS. Early intervention can help mitigate disease progression and improve long-term outcomes in affected individuals.
ORCID
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