Chronic health: “crude” form of the disease

Chronic health: “crude” form of the disease

(SVB 2013)

Dre Lara Bilodeau Pulmonologist

Quebec University Institute of Cardiology and Pulmonology (Laval Hospital)

Quebec (Quebec) Canada


Q: I am now 59 years old, and I was diagnosed with Cystic Fibrosis at the age of 52. I was then told that I was suffering from a so-called “crude” form of the disease. Since then, I have benefited from regular follow-ups from my cystic fibrosis clinic, and my breathing capacities have been relatively stable although they have been declining for the past seven years. I cannot find anything in the scientific literature on this form of the disease. Can you tell me more ?

R : Cystic fibrosis is a complex disease, the course and clinical manifestations of which vary greatly from person to person. This variability is in part attributable to genetic factors. The majority of people with cystic fibrosis have a “classic” form of the disease, which manifests itself early in life with digestive (diarrhea, malnutrition, growth retardation) and respiratory (cough, secretions, frequent infections) problems. The rough forms of cystic fibrosis correspond to milder forms of the disease.

Cystic fibrosis occurs when a person carries two mutations in the gene that causes the disease (a gene called CFTR). The term mutation means that the gene is changed and, therefore, defective. Some mutations are considered to be mild because they produce a relatively functional gene. People with a mild form of cystic fibrosis carry at least one mild mutation. They do not have all of the classic symptoms of the disease. In general, they do not have pancreatic insufficiency, which means that their pancreas normally secretes the enzymes necessary for digestion of food. They have no nutritional problems and can easily maintain a healthy weight. On the respiratory side, the symptoms are mild or sometimes even absent.

Unlike the classic forms of cystic fibrosis, which are usually detected in the first years of life, the rough forms are often diagnosed late. It is not uncommon to discover them only in adulthood. They are associated with a favorable outcome and a good survival prognosis.Air Jordan Shoes Men