Immotile Cilia Syndrome

Genetic disorder characterized by immotility of respiratory, auditory, and sperm cilia as a result of lack (or abnormality) of dynein. This anomaly is associated in approximately 50% of patients affected with situs inversus (often called Kartagener syndrome).

Primary Ciliary Dyskinesia; Rutland Ciliary Disorientation Syndrome (or Ciliary Dyscoordination due to Random Ciliary Orientation).

1:30,000-60,000 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.

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).

Repeated respiratory tract infections, sinusitis, persistent rhinorrhea, otitis media with hearing loss, 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.

Inquire for history of recent upper airway infections, pneumonia, evidence of bronchiectasis. Cardiac assessment must include an ECG and consider an echocardiogram if there is 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 use of regional or local anesthesia is ideal when possible. When general anesthesia is mandatory, supplementation with regional analgesia continued postoperatively should be considered. Ensure availability of postoperative physiotherapy. The left lung may be more at risk in aspiration, and left endobronchial intubation is more likely than right. If a double-lumen endotracheal tube is used in the presence of situs inversus, a left-sided tube may occlude the left upper lung bronchus. Bronchoscopic assessment of the bronchial tree is therefore indicated.

Chest infections should only be treated after identification of causal organism. Anticholinergics relatively contraindicated because they may prevent clearance of secretions.

Peutz-Jeghers Syndrome: Same gene map locus (19p13.3) but autosomal dominant. Also considered familial in 40 to 55% of cases. Characterized by gastrointestinal polyposis (especially the small intestine) and associated with benign adenomatous (hamartous) tumors 0.5 to 0.7 cm (0.2-0.3 in) in diameter. There is a typical mucocutaneous pigmentation consisting of discrete brown to bluish-black macules about the lips, oral mucosa, and nose. Anemia caused by intestinal bleeding is frequent. Recurrent and severe abdominal pain may occur. Onset in the adolescence.

Kartagener Syndrome: Association of primary ciliary dyskinesia and situs inversus. Inherited autosomal recessive disorder characterized by bronchiectasis, sinusitis, dextrocardia, and infertility.