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Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
Bergmann, Carsten; Frank, Valeska; Küpper, Fabian; Kamitz, Dirk; Hanten, Jens; Berges, Peter; Mager, Silke; Moser, Markus; Kirfel, Jutta; Büttner, Reinhard; Senderek, Jan; Zerres, Klaus.
Afiliación
  • Bergmann C; Department of Human Genetics, Aachen University, Aachen, Germany.
Mol Diagn Ther ; 10(3): 163-74, 2006.
Article en En | MEDLINE | ID: mdl-16771602
Cystic kidney diseases (CKDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive fibrocystic renal and hepatobiliary changes. Recent findings have proven the cystogenic process to be compatible with cellular dedifferentiation, i. e. increased apoptosis and proliferation rates, altered protein sorting and secretory characteristics, as well as disorganization of the extracellular matrix. Compelling evidence suggests that cilia play a central pathogenic role and most cystic kidney disorders converge into a common pathogenic pathway. Recently, several promising trials have further extended our understanding of the pathophysiology of CKD and may have the potential for rational personalized therapies in future years. This review aims to summarize the current state of knowledge of the structure and function of proteins underlying polycystic kidney disease, to explore the clinical consequences of changes in respective genes, and to discuss potential therapeutic approaches.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Humans Idioma: En Revista: Mol Diagn Ther Asunto de la revista: BIOLOGIA MOLECULAR / FARMACOLOGIA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2006 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Nueva Zelanda
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Humans Idioma: En Revista: Mol Diagn Ther Asunto de la revista: BIOLOGIA MOLECULAR / FARMACOLOGIA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2006 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Nueva Zelanda