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For sweat to be produced with the proper concentrations of sodium and chloride, sodium channels and chloride channels (CFTRs) must work properly. In cystic fibrosis, the CFTR chloride channel is defective, and does not allow chloride to be reabsorbed into sweat duct cells.
In sweat glands, defective CFTR results in reduced transport of sodium chloride and sodium thiocyanate [21] in the resorptive duct and therefore saltier sweat. This is the basis of a clinically important sweat test for cystic fibrosis often used diagnostically with genetic screening. [22]
However, a small portion of patients with cystic fibrosis, especially those with "mild" mutations of the cystic fibrosis transmembrane regulator (CFTR) ion channel, have near-normal sweat tests. In these cases, a useful diagnostic adjunct involves measuring the nasal transepithelial potential difference (i.e. the charge on the respiratory ...
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
IRT and CFTR mutation analyses are always confirmed with what is known as a sweat test which will show elevated levels of chloride in sweat of CF patients. [ 3 ] [ 15 ] However, this is not a perfect system and many children end up with an inconclusive diagnosis and need to be monitored for symptoms that may not show up until much later in life ...
CFTR is a transmembrane channel responsible for chloride transport and defects in this protein cause cystic fibrosis, partly through upregulation of the ENaC channel in the absence of functional CFTR. In the airways, CFTR allows for the secretion of chloride, and sodium ions and water follow passively. However, in the absence of functional CFTR ...
CFTR is a chloride channel belonging to the superfamily of ABC transporters. Each channel has two transmembrane domains and two nucleotide binding domains. ATP binding to both nucleotide binding domains causes changes these domains to associate, further causing changes that open up the ion pore.
Sweat diagnostics is an emerging non-invasive technique used to provide insights to the health of the human body. Common sweat diagnostic tests include testing for cystic fibrosis [1] and illicit drugs. [2] Most testing of human sweat is in reference to the eccrine sweat gland which in contrast to the apocrine sweat gland, has a lower ...