Roche in Russia Roche.com Contacts Site Map Font size home About Roche Products Research Diseases Press center RIME (For Professionals) Diseases Other diseases Cystic fibrosis Cystic fibrosis Cystic fibrosis is a frequent monogenic disease caused by a mutation of the CFTR gene (cystic fibrosis transmembrane regulator), characterized by damage to the exocrine glands of vital organs and systems and usually having a severe course and prognosis. The most common genetic disease. First of all, the respiratory and digestive organs are affected. If the treatment of cystic fibrosis is not carried out, this disease is difficult, the physical capabilities of patients are limited, and their life expectancy is reduced. If the diagnosis is made on time, and adequate comprehensive treatment is started, patients will be able to lead a full-fledged lifestyle (study, work, play sports), differing little from their peers. The manifestations of the disease and their severity can differ significantly from one child to another. The early manifestations of cystic fibrosis are often similar to other health problems in toddlers. All this complicates the diagnosis of cystic fibrosis. As a result, many (up to 50%!) Patients are misdiagnosed and treatment does not give results. Here are the most common manifestations of cystic fibrosis: 1. Poor bowel function (often constant diarrhea, profuse, greasy, foul-smelling stools, poorly washed off from a diaper or pot) 2. Weight loss, often despite good appetite 3. Frequently recurring bronchitis and / or pneumonia (pneumonia) 4. Prolonged obsessive, paroxysmal cough 5. Wheezing in the lungs 6. Shortness of breath 7. Chronic sinusitis 8. Salty skin taste 9. Rectal prolapse 10. Syndrome of distal intestinal obstruction 11. Thickening of the tips of the fingers and toes (the so-called "drumsticks") and changes in the nails ("watch glasses") . A child with cystic fibrosis may not have all of these symptoms. But, if there are at least two or more of them, your doctor will most likely advise you to get tested for cystic fibrosis (do a "sweat test"). Whether your child has cystic fibrosis can be checked at a cystic fibrosis center in your region, or in specialized institutions in Moscow. At the Cystic Fibrosis Center you can get a consultation with a specialist on this disease, undergo a "sweat test", donate blood for genetic analysis. Doctors of the Centers will be happy to rule out the diagnosis of cystic fibrosis, but if it is confirmed, they will prescribe modern complex treatment that will allow patients to lead a full life (study, work, play sports), not differing much from their peers. Printing To bookmarks Additionally on the topic Parkinsonism Alzheimer's disease Acne (Acne) Organ transplant Kidney transplant patient guide Legal agreement Confidentiality © 2017 JSC "Rosh-Moscow" 30.08.2017 This website contains information for patients and specialists in the field of medicine and pharmaceuticals in Russia, and may contain information on Roche products that, for one reason or another, is not available or is not officially approved in your country. The information on this site should not be used for self-diagnosis and treatment and cannot be a substitute for an in-person consultation with a doctor.