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Unusual Inherited Pulmonary Diseases Which Provide Clues to Pulmonary Physiology and Function
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Thomas Κ. C. King, Robert A. Norum
The abnormality of the cilia as the mechanism of all the features of Kartagener syndrome is an attractive concept which should be examined by studies of more subjects both in families with Kartagener syndrome in the complete form, and in families where more than one sibling has a part of the syndrome. Conceivably abnormalities of ciliary function could account for a significant fraction of respiratory pathology in which recurrent infections in the upper and lower respiratory tracts is a regular feature.
Respiratory disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Kartagener syndrome is characterised by bronchiectasis, recurrent sinusitis, dextrocardia and other isomerism-related heart defects, and often asplenia, and has traditionally been considered an autosomal recessive disorder. Recent work has shown this disorder to be part of a more extensive group of defects of ciliary structure and function, often accompanied by a disturbance of the usual pattern of left-right asymmetry and male infertility. The finding of a recurrence risk in sibs of one in eight but with no transmission to children would fit well with autosomal recessive inheritance and penetrance of 50%. (The 50% penetrance could result from the risk of inappropriate left-right symmetry if lateralisation has become random instead of being coordinated.)
Bronchiectasis
Published in Louis-Philippe Boulet, Applied Respiratory Pathophysiology, 2017
In the presence of an alteration of body defense mechanisms, either systemic or acquired, or in the presence of congenital immunodeficiency associated with mucociliary dyskinesia, bronchiectasis is often a consequence of the difficulty to fight bronchial infection [21]. In primary mucociliary dyskinesia, there is a defect of the mucociliary system, with inefficient elimination of bronchial secretions that help keep the bronchial tree sterile [22]. Different types of structural abnormalities and/or ciliary function defects, and also the absence of ciliae, can lead to the development of bronchiectasis, but this problem is often associated with infections of other organs such as sinuses, and to infertility. Primary ciliary dyskinesia is an autosomal recessive disease of uncertain prevalence. It classically presents in childhood (although it is often identified only at a later age) as recurrent otitis media and sinusitis. Half of those patients will have dextrocardia. Young's syndrome is a rare subset of primary ciliary dyskinesia that presents as bronchiectasis, rhinosinusitis, and reduced fertility from azoospermia. Kartagener syndrome is characterized by dextrocardia, sinusitis, and bronchiectasis, mainly in lung bases and right middle lobe, as well as left middle lobe [23]. In primary dyskinesia, we find defects of the dynein arms, the site of adenosine triphosphatase (ATPase) activity, a structure necessary for the normal ciliary function in the bronchial epithelium [22,24]. This abnormality is also present at the level of the nasosinusal mucosa and these entities are therefore often diagnosed by nasal biopsy [25]. In this context, the measurement of nitric oxide (NO) usually brings low values in most patients [26].
Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility
Published in Human Fertility, 2020
Zohreh Heidary, Kioomars Saliminejad, Majid Zaki-Dizaji, Hamid Reza Khorram Khorshid
Axonemal ultrastructural defects, including absent or shortened arms of dyneins, can be found in >50% of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients. Approximately 90% of KS male patients are affected by AZS. The majority of KS patients can be ascribed to dynein genes mutations. Mutation screening of DNAI1, DNAH5 and DNAH11 genes was performed in 90 patients with isolated non-syndromic AZS and 200 controls. Three mutations (one in each gene) that specifically associated with AZS were identified in seven patients (7.8%). Mutations are inherited from the mothers and may be found in familial clusters. No ultrastructural axonemal anomaly has been detected in sperm. Male carriers of the dynein mutations always exhibit AZS, whereas female carriers manifest no alterations in either fertility or pulmonary clearance (Zuccarello, Ferlin, Cazzadore, et al., 2008).
CT imaging features of paranasal sinuses in children with primary ciliary dyskinesia
Published in Acta Oto-Laryngologica, 2022
Huiying Lyu, Zhuoyao Guo, Chao Chen, Bo Duan, Zhengmin Xu, Wenxia Chen
Abnormal cilia ultrastructure and function of respiratory tract result in defective airway mucociliary clearances, lead to mucus and bacteria retention, and is responsible for recurrent respiratory infections. Upper respiratory tract infections lead to rhinitis, sinusitis, otitis media with effusion, hearing loss, etc.; lower respiratory tract infections lead to neonatal respiratory distress, chronic bronchitis, persistent wet cough, lung consolidation, atelectasis, bronchiectasis, etc. [4]. Kartagener syndrome, a triad of bronchiectasis, chronic sinusitis, and situs inversus, occurs in approximately half of PCD patients. In our study, situs inversus was also identified in almost half of cases (47.1%).
Testing for genetic contributions to infertility: potential clinical impact
Published in Expert Review of Molecular Diagnostics, 2018
Csilla Krausz, Francesca Cioppi, Antoni Riera-Escamilla
Primary Ciliary Dyskinesia (PCD) or Kartagener syndrome is a rare disease characterized by chronic respiratory tract infections, abnormally positioned internal organs and severe or total asthenozoospermia due to motility defects of cilia and flagella [49]. In PCD patients, spermatozoa appear morphologically normal under direct light microscopy, however, it presents ultrastructural defects such as the lack of dynein arms, microtubular translocations, and the missing of radial spokes. Mutations in 29 genes may explain 70% of the genetic causes of PCD and among them, DNAI1 and DNAH5 gene mutations account for up to 30% of all cases [28,50].