Cystic Fibrosis
The genetically inherited disease Cystic fibrosis results from a chromosomal abnormality (on chromosome 7), affecting all mucous secreting glands, including those found in the pancreas, lungs and intestine. To inherit the disease, both parents must be carriers of the faulty gene and as such, all offspring have a one in four chance of being born with the condition. The disease is sometimes identified soon after birth, when the small intestine is obstructed by meconium (a thick greenish substance passed by newborn babies). A simple test confirms diagnosis of Cystic fibrosis for a newborn and for known carriers a test is also now available for antenatal diagnosis.
The condition causes abnormal production of mucous resulting in malabsorption, diabetes mellitus and recurrent chest infections. Advances in treatment have meant that an increasing number of sufferers go onto survive in to adulthood, although, tragically due to infections, this not always the case.
Treatment includes a special diet, antibiotics and physiotherapy to keep the chest clear and prevent infections. Some progress with gene therapy has been made and drugs are available which break down the abnormal secretions. In end stage disease a heart and lung transplant may become a necessity.
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