title: Autosomal dominant polycystic kidney disease: the changing face of clinical management.
abstract: Autosomal dominant polycystic kidney disease is the most common inherited kidney disease and accounts for 7-10% of all patients on renal replacement therapy worldwide. Although first reported 500 years ago, this disorder is still regarded as untreatable and its pathogenesis is poorly understood despite much study. During the past 40 years, however, remarkable advances have transformed our understanding of how the disease develops and have led to rapid changes in diagnosis, prognosis, and treatment, especially during the past decade. This Review will summarise the key findings, highlight recent developments, and look ahead to the changes in clinical practice that will likely arise from the adoption of a new management framework for this major kidney disease.
authors.affiliation: Academic Nephrology Unit, University of Sheffield Medical School, Sheffield, UK; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK. Electronic address: a.ong@sheffield.ac.uk.
authors.forename: Albert C M
authors.initials: AC
authors.lastname: Ong
authors.affiliation: Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland; Division of Nephrology, Université catholique de Louvain, Brussels, Belgium.
authors.forename: Olivier
authors.initials: O
authors.lastname: Devuyst
authors.affiliation: Centre de Reference Maladies Rénales Héréditaires MARHEA, AP-HP, Hopital Necker, Université Paris Descartes, Paris, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Knebelmann
authors.affiliation: Department of Nephrology, University Freiburg Medical Center, Freiburg, Germany.
authors.forename: Gerd
authors.initials: G
authors.lastname: Walz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D000242:Cyclic AMP / Q000378:metabolism; D005260:Female; D005544:Forecasting; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D015398:Signal Transduction / Q000502:physiology; D058570:TOR Serine-Threonine Kinases / Q000378:metabolism; D050396:TRPP Cation Channels / Q000235:genetics; D055815:Young Adult
chemical_list: D000242:Cyclic AMP; D017346:Protein Serine-Threonine Kinases; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D058570:TOR Serine-Threonine Kinases; D050396:TRPP Cation Channels; C546842:MTOR protein, human