Cystic Fibrosis (Mucoviscidosis)

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Cystic fibrosis is a life-threatening, inherited disorder that mainly affects the lungs and pancreas; however it can also affect other organs in the respiratory, digestive and reproductive systems. This disease is also recognized by the following names - mucoviscidosis, cystic fibrosis of the pancreas, pancreas fibrocystic disease or pancreatic cystic fibrosis. The cells that produce saliva, sweat, mucus, and digestive juices are damaged in cystic fibrosis. Normally, these secretions are thin and slippery and act as a lubricant. For this disorder, these secretions become thick and sticky, causing blockage of ducts and passageways in the lungs and pancreas. If mucus is accumulated in the lungs, it can cause breathing problems, repeated lung infections and lung damage. Accumulation of mucus in the pancreas can lead to digestive problems, preventing the digestive enzymes produced in the pancreas to reach the small intestine due to blockage in the pancreatic duct. More than 30,000 children and adults are diagnosed with cystic fibrosis in the United States. Let's understand in detail about the causes, symptoms and treatment of this genetic disorder. Cystic fibrosis is a genetic disorder caused by a defective gene called cystic fibrosis transmembrane conductance regulator (CFTR). The protein produced by CFTR gene is responsible for regulating the normal movement of salt and water in and out of the cells. Genetic multisystem disease associated with abnormalities in salt and water transport across epithelial surfaces affecting primarily the respiratory and gastrointestinal tracts. Age of onset of symptoms is highly variable; implementation of newborn screening in the US allows for early detection and treatment. A sweat test is the most conclusive test for diagnosis. Genetic testing may be required in some cases. Respiratory disease treatment includes mucus thinners, airway clearance, and antibiotics. Most common manifestations are pancreatic dysfunction, resulting in calorie malabsorption, and lung disease, resulting from a cycle of mucus retention, infection, and inflammation. Gastrointestinal disease is treated with supplemental pancreatic enzymes, calories, and fat-soluble vitamins to support growth and nutrition. Although severely life-shortening, in the past 50 years average survival has increased dramatically to almost 38 years of age.

Symptoms:

Laboratory Test Procedures:

cough may bring up mucus
shortness of breath
wheezing or coughing after exercise
easily becoming short of breath during exercise or activity
recurring respiratory infections
increased number and severity of infections
sneezing
foul-smelling or grayish stools that may be fatty or oily
stunted growth
intestinal blockage
constipation

Direct Bilirubin
Lipase
CF Gene Mutation
Sweat chloride
IRT (Immunoreactive trypsinogen)
Stool trypsin and chymotrypsin
Insulin
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Copyright © 2017 SmrtX Last updated: Friday, January 6th, 2017