Cystic Fibrosis
Cystic Fibrosis is a one of the most common inherited disorders, with a carrier rate in the population of one in 22. It is transmitted in an autosomal recessive manner, which means that both parents must be carriers, and that the patient has inherited both defective genes. It causes a defect in a protein responsible for pumping chloride ions across membranes, resulting in the production of very thick and sticky secretions. This means that the exocrine function of the pancreas is impaired, affecting the absorption of fats and proteins. In order to assist the digestion of food pancreatic supplements need to be taken. There are also effects on the liver and lungs. A screening test is available to detect carriers; genetic counselling may be necessary before undergoing screening.
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