A Case Report of Kartagener Syndrome

Primary Ciliary Dyskinesia (PCD) and Kartagener Syndrome (KS) are rare genetic disorders. PCD occurs in patients with recurrent sino-pulmonary infection, dextrocardia, chronic vasomotor rhinitis, and bronchiectasis. This study reports a rare case of KS for having further awareness of this disease. According to this study, this disease should be considered in patients with recurrent respiratory infections, because early diagnosis and timely treatment of these patients can lead to reduced irreversible complications and increased life expectancy.

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Primary ciliary dyskinesia (Kartagener syndrome) in a 38-year-old Egyptian male: A rare case

International Journal of Case Reports and Images ◽

10.5348/ijcri-2014117-cr-10428 ◽

2014 ◽

Vol 5 (9) ◽

pp. 656

Author(s):

Motaz Badr Abdellatif Ibrahim

Keyword(s):

Primary Ciliary Dyskinesia ◽

Rare Case ◽

Kartagener Syndrome ◽

Ciliary Dyskinesia

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The Antimicrobial Activity of Peripheral Blood Neutrophils Is Altered in Patients with Primary Ciliary Dyskinesia

International Journal of Molecular Sciences ◽

10.3390/ijms22126172 ◽

2021 ◽

Vol 22 (12) ◽

pp. 6172

Author(s):

Maaike Cockx ◽

Marfa Blanter ◽

Mieke Gouwy ◽

Pieter Ruytinx ◽

Sara Abouelasrar Salama ◽

...

Keyword(s):

Peripheral Blood ◽

Primary Ciliary Dyskinesia ◽

Bacterial Infections ◽

Respiratory Infections ◽

Neutrophil Extracellular Trap ◽

Oxygen Species ◽

Recurrent Respiratory Infections ◽

Blood Neutrophils ◽

Low Levels ◽

Ciliary Dyskinesia

The airways of patients with primary ciliary dyskinesia (PCD) contain persistently elevated neutrophil numbers and CXCL8 levels. Despite their abundance, neutrophils fail to clear the airways from bacterial infections. We investigated whether neutrophil functions are altered in patients with PCD. Neutrophils from patients and healthy controls (HC) were isolated from peripheral blood and exposed to various bacterial stimuli or cytokines. Neutrophils from patients with PCD were less responsive to low levels of fMLF in three different chemotaxis assays (p < 0.05), but expression of the fMLF receptors was unaltered. PCD neutrophils showed normal phagocytic function and expression of adhesion molecules. However, PCD neutrophils produced less reactive oxygen species upon stimulation with bacterial products or cytokines compared to HC neutrophils (p < 0.05). Finally, the capacity to release DNA, as observed during neutrophil extracellular trap formation, seemed to be reduced in patients with PCD compared to HC (p = 0.066). These results suggest that peripheral blood neutrophils from patients with PCD, in contrast to those of patients with cystic fibrosis or COPD, do not show features of over-activation, neither on baseline nor after stimulation. If these findings extend to lung-resident neutrophils, the reduced neutrophil activity could possibly contribute to the recurrent respiratory infections in patients with PCD.

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Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia

Emerging Infectious Diseases ◽

10.3201/eid2608.191613 ◽

2020 ◽

Vol 26 (8) ◽

Author(s):

Fatemeh Sakhaee ◽

Farzam Vaziri ◽

Golnaz Bahramali ◽

Seyed Davar Siadat ◽

Abolfazl Fateh

Keyword(s):

Primary Ciliary Dyskinesia ◽

Pulmonary Infection ◽

Ciliary Dyskinesia

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Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report

Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology ◽

10.1016/j.tripleo.2010.05.054 ◽

2010 ◽

Vol 110 (4) ◽

pp. e49-e56

Author(s):

Kıvanç Türkoğlu ◽

Kaan Orhan ◽

Pınar Demir ◽

Barış Karabulut ◽

Deniz C. Can-Karabulut

Keyword(s):

Case Report ◽

Giant Cell ◽

Primary Ciliary Dyskinesia ◽

Giant Cell Granuloma ◽

Kartagener Syndrome ◽

Central Giant Cell Granuloma ◽

Ciliary Dyskinesia

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Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary Ciliary Dyskinesia

The American Journal of Human Genetics ◽

10.1086/302203 ◽

1999 ◽

Vol 64 (1) ◽

pp. 313-317 ◽

Cited By ~ 11

Author(s):

Michal Witt ◽

Yue-fen Wang ◽

Shengbiao Wang ◽

Cui-e Sun ◽

Jacek Pawlik ◽

...

Keyword(s):

Primary Ciliary Dyskinesia ◽

Chromosome 7 ◽

Kartagener Syndrome ◽

Ciliary Dyskinesia

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COVID-19 vaccinations: perceptions and behaviours in people with primary ciliary dyskinesia

10.1101/2021.11.08.21266047 ◽

2021 ◽

Author(s):

Eva Sophie Lunde Pedersen ◽

Maria Christina Mallet ◽

Yin Ting Lam ◽

Sara Bellu ◽

Isabelle Cizeau ◽

...

Keyword(s):

Side Effects ◽

Support Groups ◽

Primary Ciliary Dyskinesia ◽

Respiratory Infections ◽

Public Information ◽

Social Contact ◽

Vaccine Uptake ◽

Vaccination Uptake ◽

Contact Behaviour ◽

Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at high risk of severe COVID-19 and vaccination against SARS-CoV-2 is therefore important. We studied vaccination willingness, speed of vaccination uptake, side effects, and changes in social contact behavior after vaccination in people with PCD. We used data from COVID-PCD, an international participatory cohort study. A questionnaire was e-mailed to participants in May 2021 that asked about COVID-19 vaccinations. 423 participants from 31 countries replied (median age: 30 years; 261 (62%) female). Vaccination uptake and willingness was high with 273 of 287 adults (96%) being vaccinated or willing to be in June 2021; only 4% were hesitant. The most common reasons for hesitancy were fear of side effects (reported by 88%). Mild side effects were common but no participant reported severe side effects. Half of participants changed their social contact behaviour after vaccination by seeing friends and family more often. The high vaccination willingness in the study population might reflect the extraordinary effort taken by PCD support groups to inform people about COVID-19 vaccination. Clear and specific public information and involvement of representatives is important for high vaccine uptake.

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Frequency and Types of Ciliary Ultrastructural Defects in Patients With Suspected Primary Ciliary Dyskinesia Symptoms Analyzed by Transmission Electron Microscopy

10.21203/rs.3.rs-141285/v1 ◽

2021 ◽

Author(s):

Mitra Rezaei ◽

Amirali Soheili ◽

Atefeh Fakharian ◽

Hamid Jamaati ◽

Jahangir Ghorbani ◽

...

Keyword(s):

Electron Microscopy ◽

Transmission Electron Microscopy ◽

Primary Ciliary Dyskinesia ◽

Respiratory Infections ◽

Descriptive Analysis ◽

Final Diagnosis ◽

International Consensus ◽

Tem Analysis ◽

Transmission Electron ◽

Ciliary Dyskinesia

Abstract Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition of often chronic respiratory infections in early life. A useful tool for early diagnosis of such ciliary abnormalities is transmission electron microscopy (TEM). This study aimed to use TEM to examine these defects and speculate on a diagnosis.Methods: From 2017 to 2019, all referral patients with suspected PCD symptoms were included in this study. Nasal samples were taken after exclusion of further potential differential diagnosis and prepared for TEM. The final diagnosis was based on the International Consensus Guideline for reporting transmission electron microscopy results in the diagnosis of PCD. A descriptive analysis of demographic and ciliary ultrastructural data was performed by SPSS ver 21.Results: Study population consisted of 37 women and 30 men (mean age=20.34±10.7 years). The clinical presentations were as follows: bronchiectasis: 26 patients (38.8%); sinusitis: 23(34.3%); recurrent respiratory infection: 21 patients (31.3%); auditory symptoms: 5 patients (7.5%); situs inversus: 3 patients (4.4%); productive cough: 2 patients (3%); infertility: 2 patients (3%); polyposis: 1 patient (1.5%). According to TEM analysis, 12 (17%) of patients were PCD, 11 (15.7%) were indicating PCD cases, 26 (37.1%) of them had no criteria of PCD and 18 (25.7%) of cases had normal ciliary ultrastructure. Compound cilia and extra-tubule were reported in 29 (41.4%) and 31(44.3%) of patients, respectively. The outer dynein arm defect was seen in 11(16.4%) cases and the inner dynein arm (IDA) defect was seen in 20 (29.8%) cases. Two patients (3%) had microtubular disorganization.Conclusion: Bronchiectasis and sinusitis were the most common complications. The compound cilia and extra-tubule were the most prevalent TEM finding among all participants. However, the most prevalent hallmark diagnostic defects among PCD patients were ODA and IDA defects among PCD patients. Other diagnostic PCD tests should also be performed in patients in the indicating PCD group, those without PCD criteria, and normal patients with a highly suggestive history. Cell-culture, as well, should confirm IDA defects. This study highlights the fundamental need to consider ciliary defect among probable diagnoses and use TEM as a practical diagnostic tool.

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