Cystic Fibrosis
The most common, fatal genetic disease in the US
Description of the Symptoms:
CF has a variety of symptoms, including very salty-tasting skin, a persistent cough and excessive appetite but poor weight gain. The "sweat test" - which measures the amount of salt in sweat - is the standard diagnostic test for those with symptoms. A high salt level indicates CF.
Cause of the Disorder:
This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
Inheritance Pattern:
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Treatment:
there is no cure for CF, treatments have improved greatly in recent years.,Most deaths from CF occurred in children and teenagers, with improved treatments some people who have CF are living into their forties, fifties, or older.Gene therapy offers great promise for life-saving treatment for CF patients since it targets the cause of The disorder instead of just treating symptoms.
Diagnosis:
Screening test Prenatal testing for CF can be done around the 11th week of pregnancy using chorionic villi sampling (CVS). This involves removing a tiny piece of the placenta.Children with CF who are diagnosed early in life and start treatment at a young age may have better nutrition, growth, and lung function. This screening test helps doctors identify children with CF before they have symptoms.If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for CF.