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What Are The Characteristics Of Cystic Fibrosis
Different mutations: Mutations in the cftr gene cause cystic fibrosis. The cftr gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. More than 1, 000 different mutations in the cftr gene have been identified in people with cystic fibrosis. Depending on the which mutations and other genetic factors, this leads to variability of disease. ...Read more
Cough, poor growth: Common symptoms of cystic fibrosis include cough, wheeze, recurrent lung infections, poor growth, foul smelling stools, salty sweat, clubbing, and rectal prolapse. The more symptoms the greater the chance of having cystic fibrosis. Most infants today are diagnosed by newborn screening for CF before they develop any symptoms and early therapy can minimize disease symptoms. ...Read more
It depends.: Many cases of this are found in utero, or after birth, so often there are no symptoms, just the sign of a swelling in the neck by the posterior triangle at or after birth. Some can be large and can affect breathing and swallowing. They can resolve, but if they are large, they need to be drained. In any case, these patients need to be in a neonatal center capable of monitoring and treating them. ...Read more
Variable: This depends on the individual patient. There are several hundred CF mutations that have varying degrees of severity. The most common mutation, df508, can cause failure to thrive in infants, recurrent and very serious lung infections during childhood and often pancreatic insufficiency in children. While early diagnosis and preventive treatment have improved, CF is still a fatal disease. ...Read moreSee 1 more doctor answer
None: Fibrosis is scarring as a result of inflammation and tissue damage. Eventually the scarring isolates pockets of hepatocytes (liver cells) so that they can no longer function appropriately. This is cirrhosis, and that creates problems resulting in symptoms. ...Read moreSee 1 more doctor answer
At home therapies: At home treatments for CF include airway clearance therapies that get mucus out of the lungs. These include a chest vest machine & several types of inhaled medications that make it easier for mucus to come out. Most CF pts also need enzyme replacement as pills every time they eat, multivitamins & reflux medications. Talk to your CF doctor to discuss home regimens as they are patient specific. ...Read more
Depends: Not all asthmatics have the same symptoms. Coughing, wheezing, shortness of breath, etc are typical. In general, after an attack your lung function usually goes back to normal. Attacks can be caused by a number of "triggers'. Animal dander, dust mites, pollution, pollen, exercise, cold air, etc should be discussed with your physician. Removing or minimizing exposure to these can certainly help. ...Read more
Plaque build up: It is hardening of the arteries, caused by fat, cholesterol, and other substances building up in the arteries - this is called plaque - making the arteries stiffer. This plaque interferes with the normal function of the arteries and can cause problems and symptoms throughout the body. The plaque can block the arteries and/or it can break off and flow to smaller vessels and block them. ...Read moreSee 1 more doctor answer
Alpha one?: Are you referring to alpha-1 antitrypsin deficiency? If so, the symptoms are basically the same as copd, they just occur at a younger age than expected (like 20-30s). Symptoms include cough, shortness of breath, wheezing, etc. If the person smokes, the disease is accelerated. Diagnosis is made via a blood test. Treatment includes enzyme replacement as well as usual COPD therapies. ...Read more
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