Disease relevance of Kartagener Syndrome

• Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease, nephronophthisis and hydrocephalus [1].
• Approximately half of the patients with primary ciliary dyskinesia (PCD) have situs inversus, providing a link between left-right asymmetry and cilia [2].
• PCD is characterized by bronchiectasis and upper respiratory tract infections, and half of the patients with PCD have situs inversus (Kartagener syndrome) [3].
• Impaired ciliary and flagellar functions resulting in male infertility and recurrent respiratory tract infections are found in patients suffering from primary ciliary dyskinesia (PCD) [4].
• Primary ciliary dyskinesia (PCD) is a heterogeneous congenital disorder characterized by bronchiectasis and chronic sinusitis, sometimes associated with situs inversus (i.e., Kartagener's syndrome) and male infertility [5].

High impact information on Kartagener Syndrome

• Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry [6].
• Effect of arginine on mucociliary function in primary ciliary dyskinesia [7].
• Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia [3].
• Therefore, the tektin-t gene is one of the causal genes for immotile-cilium syndrome/primary ciliary dyskinesia [8].
• Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus [9].

Chemical compound and disease context of Kartagener Syndrome

• Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia [10].
• Comparison of exhaled and nasal nitric oxide and exhaled carbon monoxide levels in bronchiectatic patients with and without primary ciliary dyskinesia [11].
• The effect of regular salbutamol on lung function and bronchial responsiveness in patients with primary ciliary dyskinesia [12].
• Nitric oxide metabolites are not reduced in exhaled breath condensate of patients with primary ciliary dyskinesia [13].
• The clinical effect and the effect on the ciliary motility of oral N-acetylcysteine in patients with cystic fibrosis and primary ciliary dyskinesia [14].

Biological context of Kartagener Syndrome

• Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary dysfunction with extensive genetic heterogeneity [3].
• Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene [15].
• Patients with Kartagener's syndrome have shown electron photomicrographic abnormalities of nasal or bronchial cilia in addition to functional defects of mucociliary transport (immotile cilia syndrome) [16].
• Association of rheumatoid arthritis with Kartagener's syndrome in a patient with HLA-DR1-DR4-B27 haplotype [17].
• RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa [18].

Anatomical context of Kartagener Syndrome

• Plasma membrane fluidity and heterogeneity of polymorphonuclear leukocytes (PMN) were investigated in seven children with primary ciliary dyskinesia (PCD) and 17 healthy controls [19].
• The endometrium of an infertile patient with Kartagener's syndrome showed initial secretory phase characteristics at SEM, whereas TEM analysis demonstrated several alterations in the central and peripheral microtubular distribution in 87% of the cilia examined [20].
• A technique of membrane solubilization, fixation, and negative staining with glutaraldehyde tannic acid identified abnormally constructed central and B microtubules in respiratory cilia from dogs with primary ciliary dyskinesia [21].
• We measured cough frequency in children with primary ciliary dyskinesia (PCD), to determine how accurately families assess this symptom; and to assess the relationship between cough frequency and airway inflammation, measured using induced sputum and exhaled nitric oxide (eNO) [22].
• The diagnosis of primary ciliary dyskinesia (PCD) depends on electron microscopic examination of cilia obtained from mucosal biopsies of the nasal turbinates or the trachea [23].

Gene context of Kartagener Syndrome

• Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia [24].
• The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia [25].
• Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia [26].
• We suggest that this gene, which we have called Radial Spokehead-Like 1 (RSHL1), is a candidate gene for familial primary ciliary dyskinesia [27].
• In contrast, exhaled NO is normal in COPD, reduced in CF and diagnostically low in primary ciliary dyskinesia [28].

Analytical, diagnostic and therapeutic context of Kartagener Syndrome

• Recently, upper airway NO has been found to be reduced in a small number of children with primary ciliary dyskinesia (PCD) and its measurement has been recommended as a diagnostic test for this condition [29].
• Neither the cilia of WIC-Hyd male rats, an animal model of Kartagener's syndrome, nor human cilia from patients with primary ciliary dyskinesia (PCD) reacted positively by the immunofluorescence or PAP technique [30].
• Ga-67 scintigraphy showing the triad of bronchiectasis, paranasal sinusitis, and situs inversus in a patient with Kartagener's syndrome [31].
• Respiratory cilia of the bronchial mucosa from a 5-year-old boy with clinical evidence of classical Kartagener's syndrome (situs inversus, bronchiectasis and sinusitis) were first examined by means of transmission electron microscopy for identification of the axonemal defects described as typical for primary ciliary dyskinesia (PCD) [32].

References