Diagnosis of cystic fibrosis D. Schüler Klinik für Kinder- und Jugendmedizin, Klinikum Leer gGmbH
DOI 10.5414/ATX01785
Abstrakt
In many patients cystic fibrosis is not diagnosed or diagnosed too late. As an incidence of 1 : 3,000 is postulated for Central Europe, we suppose that nearly 25% of the patients are not detected (and, therefore, are not appropriately treated). Different reasons for not detecting those patients are: deficiency of experience, variety of disease manifestations, ambiguous laboratory results. Especially in infants the conventional diagnostic tools are not feasible. A CF-newborn screening is necessary. In absence of a CF-newborn screening in Germany clinical symptoms are the most important reasons for initiation a CF-examination. If the diagnose of CF could not proofed or excluded by conventional diagnostic tools, special electrophysiologic measurements should be used to verify the disturbed transepithelial chloride transport. A disturbed development of cystic fibrosis transmembrane conductance regulator (CFTR) by genetic defect is due to a defective cAMP-mediated chloride secretion and an accelerated rate of basal sodium transport. This electrochemical gradient is called potential difference (PD). During the last years the electrophysiological diagnosis has proved to be an additional useful diagnostic method.
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