Lidvana Spahiu1, #, Emir Behluli1, Rifat Hadziselimovic2, Thomas Liehr3, Gazmend Temaj4, *, #
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.
Polycystic kidney disease (PKD), inheritance, genes PKD1 and PKD2, polycystin proteins PC1/PC2, post-translation modification, therapy.