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Lidvana Spahiu^{1, #}, Emir Behluli¹, Rifat Hadziselimovic², Thomas Liehr³, Gazmend Temaj^{4, *, #}

¹Pediatric Department, University Clinical Center of Kosovo, Prishtina, Kosovo - ²Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina - ³Universitätsklinikum Jena, Friedrich Schiller Universität; Institut für Humangenetik, Jena Germany - ⁴Human Genetics, Faculty of Pharmacy and Medicine, College UBT, Prishtina, Kosovo

Polycystic kidney disease (PKD) is a rare condition, still causing the most severe complications among renal diseases in children and adults. PKD most often is due to genetic defects with heterogenic inheritance patterns, including mainly autosomal-dominant or -recessive traits. Mutations in PKD-associated genes, post-translation modifications of polycystin proteins PC1 and PC2, encoded by genes PKD1 and PKD2, and different metabolic changes, including signaling pathway of apoptosis, are suggested to be involved in disease formation. Here the present knowledge on PKD biology, diagnostics and therapeutic approaches is reviewed.