title: Recent advances in autosomal-dominant polycystic kidney disease.
abstract: Autosomal-dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease in adults, affecting one in every 1000 Australians. It is caused by loss-of-function heterozygous mutations in either PKD1 or PKD2 , which encode the proteins, polycystin-1 and polycystin-2 respectively. The disease hallmark is the development of hundreds of microscopic fluid-filled cysts in the kidney during early childhood, which grow exponentially and continuously through life at varying rates (between 2% and 10% per year), causing loss of normal renal tissue and up to a 50% lifetime risk of dialysis-dependent kidney failure. Other systemic complications include hypertensive cardiac disease, hepatic cysts, intracranial aneurysms, diverticular disease and hernias. Over the last two decades, advances in the genetics and pathogenesis of this disease have led to novel treatments that reduce the rate of renal cyst growth and may potentially delay the onset of kidney failure. New evidence indicates that conventional therapies (such as angiotensin inhibitors and statins) have mild attenuating effects on renal cyst growth and that systemic levels of vasopressin are critical for promoting renal cyst growth in the postnatal period. Identifying and integrating patient-centred perspectives in clinical trials is also being advocated. This review will provide an update on recent advances in the clinical management of ADPKD.
authors.affiliation: Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, Australia.|Centre for Transplant and Renal Research, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: G K
authors.initials: GK
authors.lastname: Rangan
authors.affiliation: Department of Genetic Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, Australia.
authors.forename: M C
authors.initials: MC
authors.lastname: Tchan
authors.affiliation: Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.|Sydney School of Public Health, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Tong
authors.affiliation: Centre for Transplant and Renal Research, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: A T Y
authors.initials: AT
authors.lastname: Wong
authors.affiliation: Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, Australia.|Centre for Transplant and Renal Research, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: B J
authors.initials: BJ
authors.lastname: Nankivell
mesh_terms: D057911:Angiotensin Receptor Antagonists / Q000627:therapeutic use; D019468:Disease Management; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006973:Hypertension / Q000453:epidemiology; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000453:epidemiology* / Q000628:therapy*; D016032:Randomized Controlled Trials as Topic; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000453:epidemiology / Q000628:therapy; D050396:TRPP Cation Channels / Q000235:genetics; D014667:Vasopressins / Q000627:therapeutic use
chemical_list: D057911:Angiotensin Receptor Antagonists; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D050396:TRPP Cation Channels; D014667:Vasopressins
keywords: autosomal dominant; chronic; disease; kidney; polycystic