Polycystic Kidney/Liver Disease – Clinics in Liver Disease


    • Kothadia J.P.
    • Kreitman K.
    • Shah J.M.

    Polycystic Liver Disease. [Updated 2021 May 19].

    in: StatPearls [Internet]. StatPearls Publishing,
    Treasure Island (FL)2021 ()

    • Gabow P.A.
    • Johnson A.M.
    • Kaehny W.D.
    • et al.

    Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease.

    Hepatology. 1990; 11: 1033-1037

  • Isolated polycystic liver disease.

    Adv Chronic Kidney Dis. 2010; 17: 181-189

    • Garcia Iglesias C.
    • Torres V.E.
    • Offord K.P.
    • et al.

    Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935–1980.

    Am J Kidney Dis. 1983; 2: 630-639

    • Bae K.T.
    • Zhu F.
    • Chapman A.B.
    • et al.

    Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort.

    Clin J Am Soc Nephrol. 2006; 1: 64-69

  • Adult polycystic liver and kidney diseases are separate entities.

    Clin Genet. 1986; 30: 29-37

    • Cornec-Le Gall E.
    • Torres V.E.
    • Harris P.C.

    Genetic complexity of autosomal dominant polycystic kidney and liver diseases.

    J Am Soc Nephrol. 2018; 29: 13-23

    • Cornec-Le Gall E.
    • Audrézet M.-P.
    • Chen J.-M.
    • et al.

    Type of PKD1 mutation influences renal outcome in ADPKD.

    J Am Soc Nephrol. 2013; 24: 1006-1013

    • Heyer C.M.
    • Sundsbak J.L.
    • Abebe K.Z.
    • et al.

    Predicted mutation Strength of Nontruncating PKD1 mutations Aids genotype-phenotype Correlations in autosomal dominant polycystic kidney disease.

    J Am Soc Nephrol. 2016; 27: 2872-2884

  • Autosomal dominant polycystic kidney disease: the last 3 years.

    Kidney Int. 2009; 76: 149-168

    • Porath B.
    • Gainullin V.G.
    • Cornec-Le Gall E.
    • et al.

    Mutations in GANAB, encoding the glucosidase IIα Subunit, cause autosomal-dominant polycystic kidney and liver disease.

    Am J Hum Genet. 2016; 98: 1193-1207

    • Drenth J.P.H.
    • te Morsche R.H.M.
    • Smink R.
    • et al.

    Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.

    Nat Genet. 2003; 33: 345-347

    • Davila S.
    • Furu L.
    • Gharavi A.G.
    • et al.

    Mutations in SEC63 cause autosomal dominant polycystic liver disease.

    Nat Genet. 2004; 36: 575-577

    • Besse W.
    • Dong K.
    • Choi J.
    • et al.

    Isolated polycystic liver disease genes define effectors of polycystin-1 function.

    J Clin Invest. 2017; 127: 3558

    • Watnick T.
    • He N.
    • Wang K.
    • et al.

    Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

    Nat Genet. 2000; 25: 143-144

    • Qian F.
    • Watnick T.J.
    • Onuchic L.F.
    • et al.

    The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

    Cell. 1996; 87: 979-987

    • Pei Y.
    • Watnick T.
    • He N.
    • et al.

    Somatic PKD2 mutations in individual kidney and liver cysts Support a “Two-Hit” model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.

    J Am Soc Nephrol. 1999; 10: 1524-1529

    • Hopp K.
    • Ward C.J.
    • Hommerding C.J.
    • et al.

    Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

    J Clin Invest. 2012; 122: 4257-4273

    • Hughes J.
    • Ward C.J.
    • Peral B.
    • et al.

    The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

    Nat Genet. 1995; 10: 151-160

    • Shen P.S.
    • Yang X.
    • DeCaen P.G.
    • et al.

    The structure of the polycystic kidney disease channel PKD2 in Lipid Nanodiscs.

    Cell. 2016; 167: 763-773.e11

    • Lee K.
    • Battini L.
    • Gusella G.L.

    Cilium, centrosome and cell cycle regulation in polycystic kidney disease.

    Biochim Biophys Acta – Mol Basis Dis. 2011; 1812: 1263-1271

    • Fischer E.
    • Legue E.
    • Doyen A.
    • et al.

    Defective planar cell polarity in polycystic kidney disease.

    Nat Genet. 2005; 38: 21-23

  • Polycystins, focal adhesions and extracellular matrix interactions.

    Biochim Biophys Acta – Mol Basis Dis. 2011; 1812: 1322-1326

    • Belibi F.A.
    • Reif G.
    • Wallace D.P.
    • et al.

    Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells.

    Kidney Int. 2004; 66: 964-973

  • Pro: tolvaptan delays the progression of autosomal dominant polycystic kidney disease.

    Nephrol Dial Transpl. 2019; 34: 30-34

    • Yamaguchi T.
    • Nagao S.
    • Wallace D.P.
    • et al.

    Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys.

    Kidney Int. 2003; 63: 1983-1994

    • Qian Q.
    • Li A.
    • King B.F.
    • et al.

    Clinical profile of autosomal dominant polycystic liver disease.

    Hepatology. 2003; 37: 164-171

    • Gabow P.A.
    • Kaehny W.D.
    • Johnson A.M.
    • et al.

    The clinical utility of renal concentrating capacity in polycystic kidney disease.

    Kidney Int. 1989; 35: 675-680

    • Gabow P.A.
    • Duley I.
    • Johnson A.M.

    Clinical Profiles of Gross hematuria in autosomal dominant polycystic kidney disease.

    Am J Kidney Dis. 1992; 20: 140-143

  • Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease.

    J Am Soc Nephrol. 1997; 8: 1560-1567

    • Torres V.E.
    • Wilson D.M.
    • Hattery R.R.
    • et al.

    Renal stone disease in autosomal dominant polycystic kidney disease.

    Am J Kidney Dis. 1993; 22: 513-519

    • Grampsas S.A.
    • Chandhoke P.S.
    • Fan J.
    • et al.

    Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease.

    Am J Kidney Dis. 2000; 36: 53-57

    • Yu T.-M.
    • Chuang Y.-W.
    • Yu M.-C.
    • et al.

    Risk of cancer in patients with polycystic kidney disease: a propensity-score matched analysis of a nationwide, population-based cohort study.

    Lancet Oncol. 2016; 17: 1419-1425

    • Wetmore J.B.
    • Calvet J.P.
    • Yu A.S.L.
    • et al.

    Polycystic kidney disease and cancer after renal transplantation.

    J Am Soc Nephrol. 2014; 25: 2335-2341

    • Keith D.S.
    • Torres V.E.
    • King B.F.
    • et al.

    Renal cell Carcinoma in autosomal dominant polycystic kidney disease.

    J Am Soc Nephrol. 1994; 4: 1661-1669

  • Autosomal dominant polycystic kidney disease.

    N Engl J Med. 2008; 359: 1477-1485

    • Torres V.E.
    • Chapman A.B.
    • Perrone R.D.
    • et al.

    The HALT polycystic kidney disease trials – analysis of baseline parameters.

    Kidney Int. 2013; 81: 577-585

    • Bergmann C.
    • Guay-Woodford L.M.
    • Harris P.C.
    • et al.

    Polycystic kidney disease.

    Nat Rev Dis Prim. 2018; 4: 50

    • Chebib F.T.
    • Jung Y.
    • Heyer C.M.
    • et al.

    Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.

    Nephrol Dial Transpl. 2016; 31: 952-960

    • Van Keimpema L.
    • De Koning D.B.
    • Van Hoek B.
    • et al.

    Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.

    Liver Int. 2011; 31: 92-98

    • van Aerts R.M.M.
    • van de Laarschot L.F.M.
    • Banales J.M.
    • et al.

    Clinical management of polycystic liver disease.

    J Hepatol. 2018; 68: 827-837

    • Abu-Wasel B.
    • Walsh C.
    • Keough V.
    • et al.

    Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases.

    World J Gastroenterol. 2013; 19: 5775-5786

    • Barbier L.
    • Ronot M.
    • Béatrice A.
    • et al.

    Polycystic liver disease: hepatic venous outflow obstruction lesions of the noncystic parenchyma have major consequences.

    Hepatology. 2018; 68: 652-662

    • Perrone R.D.
    • Malek A.
    • Watnick T.

    Vascular complications in autosomal dominant polycystic kidney disease.

    Nat Rev Nephrol. 2015; 11: 589-598

    • Chapman A.B.
    • Rubinstein D.
    • Hughes R.
    • et al.

    Intracranial aneurysms in autosomal dominant polycystic kidney disease.

    N Engl J Med. 1992; 327: 916-920

    • Gibbs G.F.
    • Huston J.
    • Qian Q.
    • et al.

    Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease.

    Kidney Int. 2004; 65: 1621-1627

    • Pei Y.
    • Obaji J.
    • Dupuis A.
    • et al.

    Unified criteria for Ultrasonographic diagnosis of ADPKD.

    J Am Soc Nephrol. 2009; 20: 205-212

    • Grantham J.J.
    • Torres V.E.
    • Chapman A.B.
    • et al.

    Volume progression in polycystic kidney disease.

    N Engl J Med. 2006; 354: 2122-2130

    • Gigot J.F.
    • Jadoul P.
    • Que F.
    • et al.

    Adult polycystic liver disease: is fenestration the most adequate operation for long-term management?.

    Ann Surg. 1997; 225: 286-294

    • Schnelldorfer T.
    • Torres V.E.
    • Zakaria S.
    • et al.

    Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation.

    Ann Surg. 2009; 250: 112-118

  • Assessing risk of rapid progression in autosomal dominant polycystic kidney disease and special Considerations for disease-modifying therapy.

    Am J Kidney Dis. 2021; 78: 282-292

    • Irazabal M.V.
    • Rangel L.J.
    • Bergstralh E.J.
    • et al.

    Imaging classification of autosomal dominant polycystic kidney disease: a simple model for Selecting patients for clinical trials.

    J Am Soc Nephrol. 2015; 26: 160-172

    • Cornec-Le Gall E.
    • Audrézet M.-P.
    • Renaudineau E.
    • et al.

    PKD2-Related autosomal dominant polycystic kidney disease: prevalence, clinical presentation, mutation spectrum, and Prognosis.

    Am J Kidney Dis. 2017; 70: 476-485

    • Gattone V.H.
    • Wang X.
    • Harris P.C.
    • et al.

    Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist.

    Nat Med. 2003; 9: 1323-1326

    • Hopp K.
    • Wang X.
    • Ye H.
    • et al.

    Effects of hydration in rats and mice with polycystic kidney disease.

    Am J Physiol – Ren Physiol. 2015; 308: F261-F266

    • Torres V.E.
    • Chapman A.B.
    • Devuyst O.
    • et al.

    Tolvaptan in patients with autosomal dominant polycystic kidney disease.

    N Engl J Med. 2012; 367: 2407-2418

    • Torres V.E.
    • Chapman A.B.
    • Devuyst O.
    • et al.

    Tolvaptan in later-stage autosomal dominant polycystic kidney disease.

    N Engl J Med. 2017; 377: 1930-1942

    • Devuyst O.
    • Chapman A.B.
    • Shoaf S.E.
    • et al.

    Tolerability of aquaretic-related symptoms following tolvaptan for autosomal dominant polycystic kidney disease: results from TEMPO 3:4.

    Kidney Int Rep. 2017; 2: 1132-1140

    • Mizuno H.
    • Hoshino J.
    • Suwabe T.
    • et al.

    Tolvaptan for the treatment of enlarged polycystic liver disease.

    Case Rep Nephrol Dial. 2017; 7: 108-111

    • Schrier R.W.
    • Abebe K.Z.
    • Perrone R.D.
    • et al.

    Blood pressure in early autosomal dominant polycystic kidney disease.

    N Engl J Med. 2014; 371: 2255-2266

    • Kanaan N.
    • Devuyst O.
    • Pirson Y.

    Renal transplantation in autosomal dominant polycystic kidney disease.

    Nat Rev Nephrol. 2014; 10: 455-465

    • Masyuk T.
    • Masyuk A.
    • LaRusso N.

    Therapeutic targets in polycystic liver disease.

    Curr Drug Targets. 2018; 18: 950-957

    • Masyuk T.V.
    • Masyuk A.I.
    • Torres V.E.
    • et al.

    Octreotide inhibits hepatic cystogenesis in a Rodent model of polycystic liver disease by reducing cholangiocyte Adenosine 3′,5′-cyclic Monophosphate.

    Gastroenterology. 2007; 132: 1104-1116

    • Khan S.
    • Dennison A.
    • Garcea G.

    Medical therapy for polycystic liver disease.

    Ann R Coll Surg Engl. 2016; 98: 18-23

    • Perico N.
    • Ruggenenti P.
    • Perna A.
    • et al.

    Octreotide-LAR in later-stage autosomal dominant polycystic kidney disease (ALADIN 2): a randomized, double-blind, placebo-controlled, multicenter trial.

    PLoS Med. 2019; 16https://doi.org/10.1371/JOURNAL.PMED.1002777

    • Munoz-Garrido P.
    • Marin J.J.G.
    • Perugorria M.J.
    • et al.

    Ursodeoxycholic acid inhibits hepatic cystogenesis in experimental models of polycystic liver disease.

    J Hepatol. 2015; 63: 952-961

    • D’Agnolo H.M.A.
    • Kievit W.
    • Takkenberg R.B.
    • et al.

    Ursodeoxycholic acid in advanced polycystic liver disease: a phase 2 multicenter randomized controlled trial.

    J Hepatol. 2016; 65: 601-607

  • Extrarenal manifestations of autosomal dominant polycystic kidney disease.

    Adv Chronic Kidney Dis. 2010; 17: 173-180

    • Wijnands T.F.M.
    • Görtjes A.P.M.
    • Gevers T.J.G.
    • et al.

    Efficacy and safety of aspiration sclerotherapy of simple hepatic cysts: a systematic review.

    Am J Roentgenol. 2017; 208: 201-207

    • Hoshino J.
    • Ubara Y.
    • Suwabe T.
    • et al.

    Intravascular embolization therapy in patients with enlarged polycystic liver.

    Am J Kidney Dis. 2014; 63: 937-944

    • Zhang J.L.
    • Yuan K.
    • Wang M.Q.
    • et al.

    Transarterial embolization for treatment of symptomatic polycystic liver disease: more than 2-year follow-up.

    Chin Med J (Engl). 2017; 130: 1938-1944

    • Yang J.
    • Ryu H.
    • Han M.
    • et al.

    Comparison of volume-reductive therapies for massive polycystic liver disease in autosomal dominant polycystic kidney disease.

    Hepatol Res. 2016; 46: 183-191

    • Bernts L.H.P.
    • Echternach S.G.
    • Kievit W.
    • et al.

    Clinical response after laparoscopic fenestration of symptomatic hepatic cysts: a systematic review and meta-analysis.

    Surg Endosc. 2019; 33: 691-704

    • Que F.
    • Nagorney D.M.
    • Gross J.B.
    • et al.

    Liver resection and cyst fenestration in the treatment of severe polycystic liver disease.

    Gastroenterology. 1995; 108: 487-494

    • Van Keimpema L.
    • Nevens F.
    • Adam R.
    • et al.

    Excellent survival after liver transplantation for isolated polycystic liver disease: an European Liver Transplant Registry study.

    Transpl Int. 2011; 24: 1239-1245

    • U.S. Department of Health & Human Services

    Guidance to liver transplant Programs and the National liver review board for: Adult MELD exception review. Organ Procurement and transplant Network.

    2021 () ()

    • Doshi S.D.
    • Bittermann T.
    • Schiano T.D.
    • et al.

    Waitlisted candidates with polycystic liver disease are more likely to be transplanted than those with chronic liver failure.

    Transplantation. 2017; 101 (): 1838-1844

    • Kirchner G.I.
    • Rifai K.
    • Cantz T.
    • et al.

    Outcome and quality of life in patients with polycystic liver disease after liver or Combined liver-kidney transplantation.

    Liver Transpl. 2006; 122: 1268-1277



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