Bronchiektasien bei Situs viscerum inversus

Kartagener, M.; Mully, K

doi:10.1159/000191747

Cited by 52 publications

(51 citation statements)

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“…Inverted L-R asymmetry (situs inversus) has long been linked to PCD and is found in approximately 50% of patients [Kartagener and Horlacher, 1935]. This randomization is believed to result from dysfunctional nodal cilia leading to defective nodal flow [Nonaka et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

et al. 2011

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Primary ciliary dyskinesia (PCD) is an inherited disorder causing significant upper and lower respiratory tract morbidity and impaired fertility. Half of PCD patients show abnormal situs. Human disease loci have been identified but a mouse model without additional deleterious defects is elusive. The inversus viscerum mouse, mutated at the outer arm dynein heavy chain 11 locus (Dnahc11) is a known model of heterotaxy. We demonstrated immotile tracheal cilia with normal ultrastructure and reduced sperm motility in the Dnahc11 iv mouse. This is accompanied by gross rhinitis, sinusitis, and otitis media, all indicators of human PCD. Strikingly, age-related progression of the disease is evident. The Dnahc11 iv mouse is robust, lacks secondary defects, and requires no intervention to precipitate the phenotype. Together these findings show the Dnahc11 iv mouse to be an excellent model of many aspects of human PCD. Mutation of the homologous human locus has previously been associated with hyperkinetic tracheal cilia in PCD. Two PCD patients with normal ciliary ultrastructure, one with immotile and one with hyperkinetic cilia were found to carry DNAH11 mutations. Three novel DNAH11 mutations were detected indicating that this gene should be investigated in patients with normal ciliary ultrastructure and static, as well as hyperkinetic cilia.

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Section: Introductionmentioning

confidence: 99%

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

et al. 2011

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“…In addition, human laterality defects are associated with primary cilia dyskinesia (PCD), which is characterized by deficiencies in ciliary motility. In PCD patients, 47.7% display situs inversus, 6.3% display situs ambiguus or heterotaxy, most of them also presenting cardiovascular abnormalities, while the remaining 46% show normal organ situs [50,118,119]. Once again, clinical data together with experimental results from animal models provided a biological explanation for this association, revealing that cilia are indeed early players in LR patterning.…”

Section: Human Developmental Disorders Related To the Lr Axismentioning

confidence: 89%

Symmetry OUT, Asymmetry IN

Lourenço

Saúde

2010

Symmetry

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Abstract:The formation of a perfect vertebrate body plan poses many questions that thrill developmental biologists. Special attention has been given to the symmetric segmental patterning that allows the formation of the vertebrae and skeletal muscles. These segmented structures derive from bilaterally symmetric units called somites, which are formed under the control of a segmentation clock. At the same time that these symmetric units are being formed, asymmetric signals are establishing laterality in nearby embryonic tissues, allowing the asymmetric placement of the internal organs. More recently, a "shield" that protects symmetric segmentation from the influence of laterality cues was uncovered. Here we review the mechanisms that control symmetric versus asymmetric development along the left-right axis among vertebrates. We also discuss the impact that these studies might have in the understanding of human congenital disorders characterized by congenital vertebral malformations and abnormal laterality phenotypes.

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“…It is an autosomal recessive disorder commonly leading to chronic sinusitis, respiratory distress, bronchiectasis, and male infertility. If a situs inversus is present in parallel its combination with PCD is referred to as Kartagener syndrome [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome

Ebner

Maurer

Oppelt

et al. 2015

J Assist Reprod Genet

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Purpose To evaluate whether it is a feasible option to target the oocyte (with Ca 2+ -ionophore) in case that sperm motility cannot be restored in Kartagener syndrome. Methods A case of a male Kartagener syndrome with exclusively immotile spermatozoa that did not react to the dimethylxanthine theophylline. Thus, half of the associated oocytes were treated for 15 min with the ready-to-use-ionophore CultActive immediately after ICSI whereas the other 50 % were injected with routine ICSI without artificial oocyte activation. Rates of fertilization, blastulation, pregnancy and live birth were evaluated. Results Fertilization check revealed that none of the conventionally injected but 4/6 (66.7 %) of the artificially activated oocytes showed two pronuclei. Three embryos were of good and one of fair quality. Corresponding blastocyst formation rate was 3 out of 4 (75 %). A double embryo transfer led to a healthy twin birth in the 34th week of gestation (two boys with a birth weight of 1724 g and 2199 g). Conclusions This case indicates that Ca 2+-ionophore treatment in cycles from theophylline-resistant Kartagener syndrome patients is a feasible option. The future will show if routine application of A23187 in Kartagener or primary cilia dyskinesis patients will be of benefit.

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Bronchiektasien bei Situs viscerum inversus

Cited by 52 publications

References 0 publications

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

Symmetry OUT, Asymmetry IN

Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome

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