It is a rare disorder that causes defects in the action of cilia lining the respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and the flagella of sperm cells. This genetic disorder characterized by immotility of the cilia as a result of lack or dysfunctional dynein. Clinically, these patients are subjected to recurrent respiratory infections, bronchiectasis, and sinusitis as a result of accumulation of secretions. This anomaly is associated in approximately 50% of patients affected with situs inversus (this syndrome is often called Kartagener Syndrome).
Primary Ciliary Dyskinesia; Kartagener Syndrome; Rutland Ciliary Disorientation. Syndrome (or Ciliary Dyscoordination due to Random Ciliary Orientation).
N.B.: The terminology “Immotile Ciliary Syndrome” is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. Primary Ciliary Dyskinesia is more accepted, however, represents the same medical condition.
1:30,000 to 60,000 in the general population.
Autosomal recessive with incomplete penetrance. Sporadic cases may represent new mutations with dominant expression. Identified gene map loci at 9q13.3-qter, 9p21-p13, and 5p15-p14.
Normally, cilia beat 7 to 22 times per second. Primary abnormality is absence or abnormality of dynein arms in cilia. Absence of nexin links between dynein arms is described. Dynein arms contain high levels of adenosine triphosphatase and provide the energy for ciliary beating. Absence results in akinetic or dyskinetic ciliary motion.
Bronchiectasis and sinusitis or aplasia of paranasal sinuses. Clinical history, electron microscopy of cilia, ciliary motion analysis, and studies of mucociliary transport (nasal biopsy or sperm sample) must be obtained to confirm the diagnosis.
Repeated respiratory tract infections, sinusitis, persistent rhinorrhea, otitis media with hearing loss, and male infertility. Bronchiectasis may develop in infancy and is common in early adult life secondary to recurrent pneumonia. Lung function shows an obstructive pattern, which may become restrictive later. Pulmonary hypertension and right ventricular dysfunction develop in later stages of the disease. Abnormal neutrophil migration has been demonstrated in vitro; however, its clinical significance is unknown.
Precautions before anesthesia
Inquire for history of recent upper airway infections, pneumonia, and evidence of bronchiectasis. Cardiac assessment must include an ECG and consider an echocardiogram if there is a clinical evidence of right ventricular dysfunction. Respiratory assessment including chest radiography and pulmonary function tests, especially prior to major surgery. Blood gases are mandatory prior to lung volume reduction surgery.
Increased risk for general anesthesia. Patients rely on forceful cough to clear secretions. The anesthetist should aim to allow early return of airway reflexes and of the ability to clear secretions. In young adults, pulmonary hypertension may be present. The ...