Despite the genetic etiology of the disease, as well as the wide knowledge of CFTR mutations, the diagnosis of cystic fibrosis remains clinical and not genetic. In most cases, the diagnosis is straightforward when the presence of one or more typical clinical features (see next slide) is confirmed by a finding of more than 60 mmmol/L chloride in sweat.
Self explanatory slide Note: The Pilocarpine iontophoresis method is a rapid method for stimulating sweating and facilitating the determination of sweat chloride concentration . It involves using a chemical (pilocarpine) and a mild electric current to make a part of the skin sweat, wrapping the area with plastic and a pad to absorb the sweat, and then collecting the sweat about one-half an hour later.
Self explanatory slide Note: The Pilocarpine iontophoresis method is a rapid method for stimulating sweating and facilitating the determination of sweat chloride concentration . It involves using a chemical (pilocarpine) and a mild electric current to make a part of the skin sweat, wrapping the area with plastic and a pad to absorb the sweat, and then collecting the sweat about one-half an hour later.
Self explanatory slide
Self explanatory slide Note: as for neonatal screening, the long term advantage of prenatal diagnosis for the health of CF patients is not fully confirmed
Neonatal screening programmes aimed at diagnosing CF in the neonatal period are differently implemented in various geographic regions. Usually, the first screening tool remains the measure of immunoreactive trypsinogen in dried blood spots: blood is drawn two or three days after birth and analyzed for a specific protein (called trypsinogen) secreted by the pancreas. If an IRT level is elevated, an infant may have cystic fibrosis. However, a positive test must be followed by other testing, because there are a fair number of false positives and problems other than CF that can cause a positive IRT. Other testing may include: another IRT in a month, CFTR gene mutation testing, and/or sweat chloride testing. As for CFTR gene analysis, the first step is the search for the commonest CFTR mutation (DF 508) or a panel of common mutations. Infants with two mutations are referred to a CF enter and those with one mutation are referred for sweat testing. Despite early CF diagnosis by neonatal screening is correlated with improved nutritional status and decreased morbidity, it has not been definitely associated to long term benefits, such as slowing the progression of lung disease or prolonging survival
Neonatal screening programmes aimed at diagnosing CF in the neonatal period are differently implemented in various geographic regions. Usually, the first screening tool remains the measure of immunoreactive trypsinogen in dried blood spots: blood is drawn two or three days after birth and analyzed for a specific protein (called trypsinogen) secreted by the pancreas. If an IRT level is elevated, an infant may have cystic fibrosis. However, a positive test must be followed by other testing, because there are a fair number of false positives and problems other than CF that can cause a positive IRT. Other testing may include: another IRT in a month, CFTR gene mutation testing, and/or sweat chloride testing. As for CFTR gene analysis, the first step is the search for the commonest CFTR mutation (DF 508) or a panel of common mutations. Infants with two mutations are referred to a CF enter and those with one mutation are referred for sweat testing. Despite early CF diagnosis by neonatal screening is correlated with improved nutritional status and decreased morbidity, it has not been definitely associated to long term benefits, such as slowing the progression of lung disease or prolonging survival
Pilocapin bewirkt eine lokale cholinerge Stimmulation, Acetylcholin ist Transmitter, der die Schweißdrüse zur Sekretion veranlaßt
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