Dictionary > Cystic fibrosis

Cystic fibrosis

An autosomal recessive disorder caused by mutations in the gene that encodes for cystic fibrosis transmembrane conductance regulator protein, and as a result, causes the exocrine glands to produce viscid mucus, which in turn leads to respiratory and digestive problems
Cystic fibrosis is a genetic disorder affecting the exocrine glands. The condition is characterized by signs of chronic pulmonary disease. This is due to excess mucus production in the respiratory tract. Apart from it, it is also characterized by pancreatic deficiency, abnormally high levels of electrolytes in the sweat, and occasionally by biliary cirrhosis. There is an ineffective immunologic defense against bacteria in the lungs. Pathologically, the pancreas shows obstruction of the pancreatic ducts by amorphous eosinophilic concretions, with consequent deficiency of pancreatic enzymes, resulting in steatorrhoea and azotorrhoea and intestinal malabsorption. The degree of involvement of organs and glandular systems may vary greatly, with consequent variations in the clinical picture. Other symptoms include fatty stool, clubbing of the fingers and toes, poor growth, and sinus infections.
Cystic fibrosis is heritable. It is inherited in an autosomal recessive pattern. This means that an individual with cystic fibrosis would have two copies of the defective gene and therefore would show symptoms associated with the condition.

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