Cystic fibrosis - Symptoms and causes - Mayo Clinic
2024年12月7日 · In cystic fibrosis, a change in a gene causes problems with the protein that controls the movement of salt and water in and out of cells. This gene is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects the cells that make mucus, sweat and digestive juices.
Cystic fibrosis - Diagnosis and treatment - Mayo Clinic
2024年12月7日 · If your baby has a positive cystic fibrosis screen, they will need to see their doctor and have a sweat chloride test to see if they do have cystic fibrosis. CF gene mutations are actually passed from parent to children in a specific pattern called autosomal recessive.
Cystic fibrosis FAQs - Mayo Clinic
2024年12月7日 · Many factors including gene mutation type determine the impact on the patient. But your cystic fibrosis care team can work with you as an individual patient to create a personalized treatment plan that meets your individual needs. Fertility is affected in both men and women with cystic fibrosis.
What is cystic fibrosis? A Mayo Clinic expert explains
2024年12月7日 · Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
Mayo Clinic Q and A: Diagnosing cystic fibrosis
2017年9月29日 · An inherited disease, cystic fibrosis happens due to a genetic problem. A mutation in a gene changes a protein that regulates the movement of salt in and out of cells. To develop cystic fibrosis, though, a child has to inherit two …
Mayo Clinic's Cystic Fibrosis Foundation-designated CF care center ...
2015年3月3日 · Several methods of CFTR detection are commercially available that can include specific mutations or full sequencing, which runs the risk of revealing novel mutations and polymorphisms of unknown importance. There are approximately 2,000 …
Has anyone been tested for Cystic Fibrosis since Bronchiectasis diag?
Yes, I was recently tested with a full cystic fibrosis panel. I have one mutation, but it doesn’t appear to be significant. I see my doctor in May and will get more information at that time.
Cystic fibrosis - Care at Mayo Clinic
2024年12月7日 · Experts at Mayo Clinic's campuses in Minnesota and Florida offer the latest in diagnosis and treatment of cystic fibrosis. A trained, multispecialty team of experienced doctors and other medical professionals evaluate and treat people who have CF.
Cystic fibrosis - Doctors and departments - Mayo Clinic
2024年12月7日 · Mayo Clinic researchers study genetics, causes, diagnostic tests and treatment options for cystic fibrosis. You may have the opportunity to participate in clinical trials. Publications. See a list of publications about cystic fibrosis by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine.
Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
2022年5月13日 · A gene change (genetic mutation) causes PKU, which can be mild, moderate or severe. In a person with PKU, a change in the phenylalanine hydroxylase (PAH) gene causes a lack of or reduced amount of the enzyme that's needed to process phenylalanine, an amino acid.