title: [Autosomal dominant polycystic kidney disease--research status and clinical manifestation].
abstract: This paper deals with the current genetic knowledge about autosomal dominant polycystic kidney disease (ADPKD). A short history of the mapping of the PKD1 and PKD2 genes, the types of mutations in these genes and methods of their detection are described. The main research trends involve mutations in PKD genes and the relation between the type of mutation and clinical features of the disease, the role of polycystins in the pathogenesis of ADPKD, and attempts to assess the influence of environmental factors on the progression of the disease. The second-hit model and the role of modifying genes in the pathogenesis of the disease are also discussed. The clinical manifestation of ADPKD, especially the risk factors of unfavorable progression and extrarenal manifestation of the disease, are presented, with particular emphasis on changes in the circulatory and nervous systems. Therapeutic implications as well as the relations between autosomal polycystic kidney disease and the recently described autosomal dominant polycystic liver disease are also discussed.
authors.affiliation: Zespół Publicznych Zakładów Opieki Zdrowotnej, Stacja Dializ w Miliczu. zpzoz@poczta.szpital-milicz.com
authors.forename: Hanna
authors.initials: H
authors.lastname: Augustyniak-Bartosik
authors.forename: Wacław
authors.initials: W
authors.lastname: Weyde
authors.forename: Magdalena
authors.initials: M
authors.lastname: Krajewska
authors.forename: Marian
authors.initials: M
authors.lastname: Klinger
mesh_terms: D002874:Chromosome Mapping; D018450:Disease Progression; D006801:Humans; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics*; D011506:Proteins / Q000032:analysis; D043562:Receptors, G-Protein-Coupled / Q000032:analysis; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D043562:Receptors, G-Protein-Coupled; D050396:TRPP Cation Channels; C496405:PKD1L2 protein, human