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Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic varia…
The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms.
CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise.
NIH: National Heart, Lung, and Blood Institute
From MedlinePlus: Cystic Fibrosis (US National Library of Medicine) ↗
🧪 Genetic diseases: Genetic diseases are caused by a change in a gene (or a chromosome), often inherited from the parents - such as sickle cell disease, cystic fibrosis and Duchenne muscular dystrophy.
General information about genetic diseases, reviewed by people; it does not describe any one person. Below: the evidence for cystic fibrosis itself.
AI reads the targets, drugs, trials and papers below and writes where the science stands — every claim cited. It is shared with everyone who opens cystic fibrosis.
Green labels: what the target is known to be druggable by. The score combines genetics, somatic mutations, drugs, expression and literature.
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