Cystic fibrosis -cause clinical features complicaions and management Custom Search Cystic fibrosis is a genetic disease resulting from mutations on the long arm of chromosome number 7. It is a major cause of pulmonary and gastrointestinal problems among children in some countries. It is a recessive disorder which means a child can suffer from the disease if he/she inherits an abnormal gene from each parent. If there is only abnormal gene such a person will be a carrier of the disease without suffering from it but can pass it on to his offspring. The defect in the gene which codes for a protein controlling movement of water and electrolytes into and out of cells results in production of abnormally thick mucus which causes widespread obstruction inside lungs and other organs.
Clinical features: Occasionally the disease manifests in the newborn baby with intestinal obstruction caused by tenacious meconium in the ileum. Nearly half of patients will cystic fibrosis present in infancy with failure to thrive and lung problems like recurrent cough and wheezing. Some children develop respiratory symptoms later in childhood. Eventually all patients will cystic fibrosis suffer from airway disease. In severe cases sputum may contain blood due to damage to blood vessels in lungs a condition known as hemoptysis. These patients suffer from malnutrition due to deficiency of enzymes of pancreas . They suffer from abdominal distension, abdominal discomfort, flatulence and bulky and greasy stools. The protein level in the blood may go down due to malabsorption. Some children may suffer from intestinal obstruction. These children also suffer from deficiency of fat soluble vitamins due to impaired fat absorption. Many patients of cystic fibrosis also suffer from liver disease which may culminate in scarring of liver-a condition known as cirrhosis. Nearby all males with this condition suffer from infertility. This results from failure of development of vas deferens. Females in general are fertile but pregnancy is risky as it causes lot of stress. Treatment: As on today there is no cure for this disease. Gene therapy is under trial. Treatment is directed towards alleviating lung and gastrointestinal problems. The mainstay of treatment of digestive problems is the supplementation with pancreatic enzymes. Enzymes usually have to be taken with every meal and with snacks. Patients also require supplemental fat soluble vitamins. These patients may need more calories compared to those of same age due to fecal loss of fat and proteins. Lung problems require antibiotics to treat infections, bronchodilators for wheezing and judicious use of steroids. Many patients benefit with inhaled human recombinant DNAse (an enzyme which liquefies thick mucus) and inhaled tobramycin for treating infections. Seriously ill patients require hospitalization and intravenous antibiotics and airway clearance therapy. Lung transplant is done for severe lung disease. Prognosis: Life span is reduced for these patients. With proper management most can reach adulthood. Custom Search
Page last reviewed on 2nd January 2011
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