ABSTRACT
Kartagener syndrome is characterised by bronchiectasis, recurrent sinusitis, dextrocardia and other isomerism-related heart defects, and often asplenia, and has traditionally been considered an autosomal recessive disorder. Pulmonary surfactant metabolism dysfunction, which causes the pathologic appearance of pulmonary alveolar proteinosis, is a rare autosomal recessive disorder affecting the ability of the lungs to expand after birth. The remarkable recent advances in our understanding of cystic fibrosis have sprung almost entirely from genetic studies, the gene being the first to be isolated by the positional cloning approach without the help of chromosome rearrangements. Congenital vocal cord paralysis may also be part of a wider neurological disorder. The identification of specific genes involved in asthma and atopy remains a controversial area, with conflicting results in relation to specific loci. Lung cancer has long been recognised to have a genetic predisposition, interacting with environmental factors, which include uranium mining, residential radon and asbestos exposure, chronic obstructive pulmonary disease, passive smoking and smoking itself.
