as of November 21, 2009
Cystic Fibrosis Corner
OVERVIEW
Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is the most common type of chronic lung disease in children and young adults, and may result in early death.
CAUSES/RISK FACTORS
Cystic fibrosis (CF) is caused by a defective gene which tells the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and the pancreas, the organ that helps to break down and absorb food.
This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man's reproductive system.
Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent.
SYMPTOMS
Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person. But in general they include:
-No bowel movements in first 24 to 48 hours of life
-Stools that are pale or clay colored, foul smelling, or that float
-Infants may have salty-tasting skin
-Recurrent respiratory infections, such as pneumonia or sinusitis
-Coughing or wheezing
-Weight loss, or failure to gain weight normally in childhood
-Diarrhea
-Delayed growth
-Fatigue
CARE/TREATMENT
An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Specialty clinics for cystic fibrosis may be helpful and can be found in many communities.
Treatment includes:
-Antibiotics for respiratory infections.
-Pancreatic enzymes to replace those that are missing.
-Vitamin supplements, especially vitamins A, D, E, and K.
-Inhaled medicines to help open the airways.
-DNAse enzyme replacement therapy to thin the mucus and makes it easier to cough up.
-Pain relievers. Research has shown that the pain reliever ibuprofen may slow lung deterioration in some children with cystic fibrosis. The results were most dramatic in children ages 5 to 13.
-Postural drainage and chest percussion.
-Lung transplant may be considered in some cases.
PREVENTION
There is no way to prevent cystic fibrosis. Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in between 60 and 90% of carriers, depending on the test used.
Real Stories, Expert Advice
Health Corner Videos: Cystic Fibrosis
Caring for a Child With a Chronic Illness
"My name is Carole Griego and I'm a mom of a seven year old daughter who has cystic fibrosis. CF is a genetic disease, it's a chronic illness and there is no cure for it. Basically the defect involves mostly the lungs but involves every organ that...
Resources
Cystic Fibrosis Foundation
Cystic Fibrosis Research, Inc. (CFRI)
National Heart Lung and Blood Institute
CysticFibrosis.com
In the News: Cystic Fibrosis
Exome-Sequencing Might Help Identify Genetic Cause Of Thousands Of Disorders
Fri, 20 Nov 2009 05:00:00 PST
http://www.medicalnewstoday.com/articles/171726.php
For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder. Mendelian disorders, such as cystic fibrosis and sickle cell disease, are the result of one or more mutations in a single gene, typically a gene that makes a protein. All of the regions that code for proteins taken together are called the exome.
Antioxidant Found In Vegetables Has Implications For Treating Cystic Fibrosis
Wed, 18 Nov 2009 01:00:00 PST
http://www.medicalnewstoday.com/articles/171257.php
Scientists at the University of Pennsylvania School of Medicine discovered that a dietary antioxidant found in such vegetables as broccoli and cauliflower protects cells from damage caused by chemicals generated during the body's inflammatory response to infection and injury. The finding has implications for such inflammation-based disorders as cystic fibrosis (CF), diabetes, heart disease, and neurodegeneration.