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
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
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
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 ...