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“This patient was referred by the GP to general medical outpatients on account of malaise. Please examine the patient’s cardiovascular system and present your findings to the examiners.”[/ultimate_heading][vc_empty_space image_repeat=”no-repeat”][vc_video link=”https://vimeo.com/138191648″][vc_empty_space image_repeat=”no-repeat”][vc_row_inner row_type=”row” type=”full_width” use_row_as_full_screen_section_slide=”no” text_align=”left” css_animation=””][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Station Time” counter_value=”20″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Time for this encounter” counter_value=”10″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Maximum time to examine your patient” counter_value=”6″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][vc_column_inner width=”1/4″][stat_counter icon_size=”32″ counter_title=”Minimum time for discussion and questions” counter_value=”4″ counter_suffix=” minutes” speed=”3″][/vc_column_inner][/vc_row_inner][vc_empty_space image_repeat=”no-repeat”][/vc_column][/vc_row][vc_row row_type=”row” use_row_as_full_screen_section=”no” type=”full_width” oblique_section=”no” text_align=”left” css_animation=””][vc_column][/vc_column][/vc_row]
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- Cardiovascular 0%
Kartagener’s syndrome, also known as primary ciliary dyskinesia (PCD), is a rare genetic disease that follows an autosomal recessive inheritance pattern. The estimated prevalence is about 1 per 30,000. A genetic defect in cilia leads to ENT symptoms, infertility, and recurrent infections.
Chronic bronchitis leads to bronchiectasis, reflecting defective mucociliary clearance. About half of patients with PCD have right-left defects like situs inversus totalis. Dysfunction of embryological cilia can also lead to heterotaxy and congenital heart disease.
PCD’s clinical features often become apparent early in life. The majority (70-80%) of PCD patients present as neonates with respiratory distress. PCD is under-recognized, and newborns with respiratory distress are frequently misdiagnosed.
To summarize, PCD manifests clinically as follows:
● Left-right laterality defects
● Heterotaxy and cardiovascular defects
● Upper respiratory tract involvement (e.g., the classic feature rhinosinusitis)
● A productive cough compensates for impaired mucociliary clearance
The par excellence of diagnostic tests for PCD is electron microscopic ultrastructural analysis of cilia. Samples are collected from nasal scrape or bronchial brush biopsy.
Clinical genetic testing is available for a subset of mutations that cause PCD. There has been a multi-center effort to identify more PCD-specific mutations to expand the clinical utility of genetic testing. Thus, genetic testing is likely to supersede ultrastructural analysis of cilia as the diagnostic gold standard.
Nasal nitric oxide (NO) measurements is a common ancillary diagnostic test. Nasal NO is characteristically suppressed in patients with PCD (10-20% of normal). NO screening is useful for identifying probable PCD, with confirmation using genetic testing.
PCD is genetically heterogeneous. Mutations in several genes encoding structural and functional proteins in cilia have have been characterized. The genes that encode proteins in cilia are highly evolutionarily conserved across phyla. Disease-causing mutations generally lead to defective axonemal structure.
Originally, PCD was called “immotile cilia syndrome” because patients with recurrent sinusitis and bronchiectasis were thought to have immotile cilia. Later, it was determined that most cilia were in fact motile, but exhibited a poorly orchestrated or abnormal beat frequency. Ciliary beat frequency ranges from 8-20 Hz under normal circumstances. Respiratory irritants like tobacco smoke can release nitric oxide that increases beat frequency.
Since the structural components of cilia are highly complex and involve multiple proteins, it is unremarkable that a myriad of mutations can cause PCD. Efforts to identify PCD-specific genes using familial genome-wide linkage studies have been disappointing.
No treatment exists to restore cilia function. Most treatments recommended for PCD have been inferred from cystic fibrosis and bronchiectasis medical literature. The management of PCD should minimally involve monitoring nutritional status, daily airway clearance, antibiotics to control infections and routine vaccinations. Clinicians may also want to consider:
● Pulmonary function monitoring
○ Oxyhemoglobin saturation, spirometry, lung volume estimation
● Chest physical therapy (CPT) by hand percussion, postural drainage, or mechanical methods
○ Aerosolized bronchodilators to maintain airway clearance
● Management of infections and aggressive airway clearance
○ For recurrent or chronic infections, preventive oral or nebulized antibiotics are indicated.
● Regular lung function testing, respiratory cultures, and lung imaging should be considered
Honoré I, Burgel PR. Primary ciliary dyskinesia in adults. Rev Mal Respir. 2015;
Polineni D, Davis SD, Dell SD. Treatment recommendations in Primary Ciliary Dyskinesia. Paediatr Respir Rev. 2015;
Leigh MW, Pittman JE, Carson JL, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009;11(7):473-87.
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