People with cystic fibrosis produce abnormally thick mucus that clogs ducts in the respiratory and digestive...

People with cystic fibrosis produce abnormally thick mucus that clogs ducts in the respiratory and digestive systems. One of the major organs affected is the pancreas. What is the specific faulty condition associated with this genetic disorder and predict the effects on the digestive system in those individuals carrying this gene.

Expert Solution

Cystic fibrosis is an inherited multisystem disorder of children and adults. Dysfunction of the cystic fibrosis transmembrane conductance regulator protein (CFTR), the primary defect.

Cystic fibrosis is inherited as an autosomal recessive trait. The CF gene codes for the CFTR protein, which is expressed largely in epithelial cells of airways, the gastrointestinal tract (including the pancreas and biliary system) the sweat glands, and the genitourinary system.

More than 1,900 CFTR polymorphisms grouped into 5 main classes of mutations that affect protein function are associated with the Cystic fibrosis syndrome . The most prevalent mutation of CFTR is the deletion of a single phenylalanine residue at amino acid 508 (F508del)

Cyclic adenosine monophosphate–stimulated protein kinase A regulation of chloride conductance is the primary function of CFTR. The membranes of CF epithelial cells are unable to secrete chloride ions in response to cyclic adenosine monophosphate mediated signals, and excessive amounts of sodium are absorbed through these membranes

Effect on digestive system : -

Newborns :-

In 10-15% of newborn infants with CF, the ileum is completely obstructed by meconium (meconium ileus) Abdominal distention, emesis, and failure to pass meconium appear in the first 24-48 hr of life

Children :-

More than 85% of affected children show evidence of protein and fat malabsorption from exocrine pancreatic insufficiency.

Symptoms include frequent, bulky, greasy stools and failure to gain weight even when food intake appears to be large. Characteristically, stools contain readily visible droplets of fat.

A protuberant abdomen, decreased muscle mass, poor growth, and delayed maturation are typical physical signs.

Sydney Mullin answered 1 year ago

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