Chronic, progressive, inherited, incurable disease that affects exocrine (mucus-secreting) glands

Transmitted as an autosomal recessive trait

Genetic mutation involving chloride transport across epithelial membranes (more than 100 specific mutations of the gene identified)

Most common fatal genetic disease of White children

Twenty-five percent chance of transmission with each pregnancy when both parents are carriers of the recessive gene

Highest in people of northern European ancestry

Less common in Blacks, Native Americans, and people of Asian ancestry

Equally common in both sexes

Characterized by major aberrations in sweat gland, respiratory, and GI functions

Accounts for almost all cases of pancreatic enzyme deficiency in children

Clinical effects appearing soon after birth or taking years to develop

Death from pneumonia, emphysema, or atelectasis

Viscosity of bronchial, pancreatic, and other mucous gland secretions increases, obstructing glandular ducts.

Accumulation of thick, tenacious secretions in the bronchioles and alveoli causes respiratory changes, eventually leading to severe atelectasis and emphysema.

This disorder also causes characteristic GI effects in the intestines, pancreas, and liver.

Obstruction of the pancreatic ducts results in a deficiency of trypsin, amylase, and lipase; it prevents the conversion and absorption of fat and protein in the intestinal tract and interferes with the digestion of food and absorption of fat-soluble vitamins.

In the pancreas, fibrotic tissue, multiple cysts, thick mucus, and fat replaces the acini, producing signs of pancreatic insufficiency.

Autosomal recessive mutation of gene on chromosome 7

Causes of symptoms: increased viscosity of bronchial, pancreatic, and other mucous gland secretions and consequent destruction of glandular ducts

Recurring bronchitis and pneumonia

Nasal polyps and sinusitis

Wheezing

Coughing

Shortness of breath

Abdominal distention, vomiting, constipation

Frequent, bulky, foul-smelling, and pale stool with a high fat content