Hereditary polycystic kidney disease: Genetic diagnosis and counseling

Abstract

Description of the evidence collection method The literature review of scientific articles in this guideline was held in the databases Medline, Cochrane and SciELO. The search for evidence came from actual clinical scenarios and used keywords (MeSH terms) grouped in the following syntax: adult dominant polycystic kidney disease; adult recessive polycystic kidney disease; PKD mutation; PKDH1 mutation; renal cystic disease; polycystin; renal ultrassonography; renal transplantation; fibrocystin; congenital hepatic fibrosis; biliary dysgenesis; liver cystic disease; end-stage renal disease; linkage analysis. Degree of recommendation and strength of evidence A: Experimental or observational studies of higher consistency. B: Experimental or observational studies of lower consistency. C: Case reports (non-controlled studies). D: Opinions without critical evaluation, based on consensus, physiological studies, or animal models. Objectives: to present the main scientific information linked to acquired clinical experience and related to diagnosis and genetic counseling in polycystic kidney disease (hereditary).