Cystic Fibrosis
Cystic fibrosis is the most common fatal and inherited disease in Caucasian populations, caused by the acquisition of two recessive genes from carriers who are typically not affected themselves. The abnormality affects the so-called exocrine glands and the most obvious and troublesome feature is the development of chronic infections of the respiratory tract. Many organ systems are affected by the glandular abnormalities but it is the eventual failure of the respiratory system which is the most common cause of death.
Mucus produced by the body in sufferers from cystic fibrosis is thicker than normal due to the genetic lack and this heightens the risk of bacterial infections. It is hard to clear the more viscous respiratory secretions from the lungs and the other main areas affected are the liver, pancreas, digestive tract and sweat glands. At birth the lungs are unaffected but soon become involved in repeated inflammation and infection with routine colonisation of the lungs by various bacteria. Thickening of the lung membranes gradually reduces the effectiveness of respiratory exchange and ends with respiratory failure.
Thickened mucus secretions in the intestinal tract can cause an obstruction of some part of the bowel and the ability to absorb nutrients from food is also reduced, often indicated initially by the baby failing to gain weight normally ("failure to thrive"). If this progresses and adhesions form then the bowel can become obstructed, necessitating removal of part of its length which further reduces nutrient absorption. Pancreatic enzymes are unable to work at optimal efficiency, and if pancreatic insufficiency develops then patients may fail to gain weight and poorly absorb vitamins which are fat soluble such as A, D, E and K.
Cystic fibrosis is the most commonly occurring genetic condition in which the outcome is fatal, passed on by a gene which is recessive in nature. White people of European origin show an incidence of cystic fibrosis of 1 in 3200 live births, while Asian populations at the other end of the scale have 1 in 90,000 incidence. The median survival age for cystic fibrosis patients is thirty-seven years, with female patients living for significantly fewer years. The lung disease worsens inexorably from bronchitis to bronchiectasis and to end stage disease in the lungs with heart failure. The variability of the disease is considerable, with differences in progression, pattern of disease, symptoms severity and diagnosis age.
The incidence of gallstones and gallbladder inflammation is higher in patients who have cystic fibrosis than the general population. There may be delay in the development of secondary sexual characteristics and puberty, with male infertility common due to a lack of a vas deferens, with a possible reduction to some degree in female fertility too. Belonging to the lower layers of the socioeconomic spectrum is connected with significantly worse outcomes of lung disease. Male patients show significantly lower levels of lung problems than female patients and also have a longer life expectancy.
The diagnosis and management of cystic fibrosis is a complex matter with involvement of a large number of body systems so a multidisciplinary team is necessary for full evaluation, preferably in a centre which specialises in these conditions. Once the diagnosis and investigations have been taken care of, the plan of treatment involves many aspects of disease management. Patient and/or parent education is crucial as the length of life and the quality of life is strongly affected by the patient's adherence to the treatment regimen. Coping with a disabling and lifelong condition can require counselling and airway clearance techniques and the use of nebulisers and inhalers should be taught by a physiotherapist.
The complications of respiratory disease may need surgical management to treat such conditions such as collapsed lung or considerable coughing up of blood. Gastrointestinal complications and obstruction may also need to be managed surgically. End stage lung disease can be managed by lung transplant or heart-lung transplant, but transplants may not increase life expectancy although quality of life may be improved. The diet can be essentially normal with an increased energy and fat intake recommended with supplementation of vitamins and minerals. Malabsorption of nutrients and the increased nutrient demand of having chronic inflammation require nutritional supplementation.
Mucus produced by the body in sufferers from cystic fibrosis is thicker than normal due to the genetic lack and this heightens the risk of bacterial infections. It is hard to clear the more viscous respiratory secretions from the lungs and the other main areas affected are the liver, pancreas, digestive tract and sweat glands. At birth the lungs are unaffected but soon become involved in repeated inflammation and infection with routine colonisation of the lungs by various bacteria. Thickening of the lung membranes gradually reduces the effectiveness of respiratory exchange and ends with respiratory failure.
Thickened mucus secretions in the intestinal tract can cause an obstruction of some part of the bowel and the ability to absorb nutrients from food is also reduced, often indicated initially by the baby failing to gain weight normally ("failure to thrive"). If this progresses and adhesions form then the bowel can become obstructed, necessitating removal of part of its length which further reduces nutrient absorption. Pancreatic enzymes are unable to work at optimal efficiency, and if pancreatic insufficiency develops then patients may fail to gain weight and poorly absorb vitamins which are fat soluble such as A, D, E and K.
Cystic fibrosis is the most commonly occurring genetic condition in which the outcome is fatal, passed on by a gene which is recessive in nature. White people of European origin show an incidence of cystic fibrosis of 1 in 3200 live births, while Asian populations at the other end of the scale have 1 in 90,000 incidence. The median survival age for cystic fibrosis patients is thirty-seven years, with female patients living for significantly fewer years. The lung disease worsens inexorably from bronchitis to bronchiectasis and to end stage disease in the lungs with heart failure. The variability of the disease is considerable, with differences in progression, pattern of disease, symptoms severity and diagnosis age.
The incidence of gallstones and gallbladder inflammation is higher in patients who have cystic fibrosis than the general population. There may be delay in the development of secondary sexual characteristics and puberty, with male infertility common due to a lack of a vas deferens, with a possible reduction to some degree in female fertility too. Belonging to the lower layers of the socioeconomic spectrum is connected with significantly worse outcomes of lung disease. Male patients show significantly lower levels of lung problems than female patients and also have a longer life expectancy.
The diagnosis and management of cystic fibrosis is a complex matter with involvement of a large number of body systems so a multidisciplinary team is necessary for full evaluation, preferably in a centre which specialises in these conditions. Once the diagnosis and investigations have been taken care of, the plan of treatment involves many aspects of disease management. Patient and/or parent education is crucial as the length of life and the quality of life is strongly affected by the patient's adherence to the treatment regimen. Coping with a disabling and lifelong condition can require counselling and airway clearance techniques and the use of nebulisers and inhalers should be taught by a physiotherapist.
The complications of respiratory disease may need surgical management to treat such conditions such as collapsed lung or considerable coughing up of blood. Gastrointestinal complications and obstruction may also need to be managed surgically. End stage lung disease can be managed by lung transplant or heart-lung transplant, but transplants may not increase life expectancy although quality of life may be improved. The diet can be essentially normal with an increased energy and fat intake recommended with supplementation of vitamins and minerals. Malabsorption of nutrients and the increased nutrient demand of having chronic inflammation require nutritional supplementation.
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