Mucoviscidose - Cystic Fibrosis

[Rors]

Grégory LeMarchal died yesterday after a long struggle with Mucoviscidosis (check here)
So here's some info about Cystic Fibrosis that is one of the most frequent genetic disease:

Cystic fibrosis (CF), also called mucoviscidosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.'[1]

Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucous production as well as a low immune system results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ilius, failure to thrive, and recurrent lung infections.

Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, incidence is 1 in 1000.[2] In Victoria, Australia, incidence is 1 in 3600[3]. In northern Italy, incidence is 1 in 4300[4] It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carry one gene for CF, making it the most common genetic disease among them.

Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing (See also Dor Yeshorim) or in early childhood by a sweat test. Newborn screening tests are increasingly common and effective. There is no cure for CF, and most individuals with cystic fibrosis die young — many in their 20s and 30s from lung failure although with many new treatments being introduced the life expectancy of a person with CF is increasing. Ultimately, lung transplantation is often necessary as CF worsens.

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene helps create sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) and cyst formation within the pancreas, first recognized in the 1930s.

More info on Wikipedia