Mukoviszidose – eine pleiotrope Ionenkanalerkrankung mit wesentlicher Lungenbeteiligung |
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| Authors: | F Stanke B Tümmler Prof Dr M Stuhrmann |
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| Institution: | 1. Zentrum für Kinderheilkunde und Jugendmedizin, Abteilung für P?diatrische Pneumologie, Allergologie und Neonatologie, Medizinische Hochschule Hannover und Standort des Deutschen Zentrums für Lungenforschung (DZL) Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Hannover, Deutschland
2. Zentrum für Pathologie, Forensik und Genetik, Institut für Humangenetik, OE 6300, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland
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| Abstract: | The monogenic disease cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is inherited in an autosomal recessive fashion. Successful diagnosis of the disease is achieved by patient history, clinical assessment, genetic analysis of the CFTR gene and by in vivo measurement and ex vivo characterization of the basic defect in patient’s samples. Frequently, differential diagnosis of CFTR-related disorders such as congenital bilateral absence of the vas deferens (CBAVD), pancreatitis and bronchiectasis needs to be performed. Molecular therapeutics has been developed for some CFTR mutations and these will facilitate direct clinical use of the information provided by CFTR mutation analysis. |
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