Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30:259–69.
Article
PubMed
Google Scholar
Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med. 2011;364:1533–43.
Article
CAS
PubMed
PubMed Central
Google Scholar
Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007;8:880–93.
Article
CAS
PubMed
Google Scholar
Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 2011;147:70–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Liebau MC. An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases. Front Pediatr. 2014;2:68.
Article
PubMed
PubMed Central
Google Scholar
Walz G, Budde K, Mannaa M, Nürnberger J, Wanner C, Sommerer C, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363:830–40.
Article
CAS
PubMed
Google Scholar
Serra AL, Poster D, Kistler AD, Krauer F, Raina S, Young J, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363:820–9.
Article
CAS
PubMed
Google Scholar
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012;367:2407–18.
Article
CAS
PubMed
PubMed Central
Google Scholar
Caroli A, Perico N, Perna A, Antiga L, Brambilla P, Pisani A, et al. Effect of longacting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebo-controlled, multicentre trial. Lancet. 2013;382:1485–95.
Article
CAS
PubMed
Google Scholar
Cadnapaphornchai MA, George DM, McFann K, Wang W, Gitomer B, Strain JD, et al. Effect of pravastatin on total kidney volume, left ventricular mass index, and microalbuminuria in pediatric autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2014;9:889–96.
Article
PubMed
PubMed Central
Google Scholar
Schrier RW, Abebe KZ, Perrone RD, Torres VE, Braun WE, Steinman TI, et al. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2014;371(24):2255–66.
Article
PubMed
PubMed Central
Google Scholar
Torres VE, Abebe KZ, Chapman AB, Schrier RW, Braun WE, Steinman TI, et al. Angiotensin blockade in late autosomal dominant polycystic kidney disease. N Engl J Med. 2014;371(24):2267–76.
Article
PubMed
PubMed Central
Google Scholar
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol JASN. 2003;14:76–89.
Article
CAS
PubMed
Google Scholar
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005;67:829–48.
Article
CAS
PubMed
Google Scholar
Hartung EA, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 2014;134(3):e833–45.
Article
PubMed
PubMed Central
Google Scholar
Boddu R, Yang C, O’Connor AK, Hendrickson RC, Boone B, Cui X, et al. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. J Mol Med (Berl). 2014;92(10):1045–56.
Article
CAS
PubMed Central
Google Scholar
Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003;111(5 Pt 1):1072–80.
Article
PubMed
Google Scholar
Büscher R, Büscher AK, Weber S, Mohr J, Hegen B, Vester U, et al. Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. Pediatr Nephrol. 2014;29(10):1915–25.
Article
PubMed
Google Scholar
Sweeney WE, Avner ED. Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res. 2014;75:148–57.
Article
CAS
PubMed
Google Scholar
Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 2014;165(3):611–7.
Article
PubMed
PubMed Central
Google Scholar
Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006;85:1–21.
Article
Google Scholar
Irazabal MV, Rangel LJ, Bergstralh EJ, Osborn SL, Harmon AJ, Sundsbak JL, et al. Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol JASN. 2015;26(1):160–72.
Article
CAS
PubMed
Google Scholar
Zerres K, Rudnik-Schöneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie. Acta Paediatr Oslo Nor 1992. 1996;85:437–45.
CAS
Google Scholar
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, et al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013;144:112–21. e2.
Article
PubMed
Google Scholar
Jia G, Kwon M, Liang HL, Mortensen J, Nilakantan V, Sweeney WE, et al. Chronic treatment with lisinopril decreases proliferative and apoptotic pathways in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010;25:1139–46.
Article
PubMed
Google Scholar
Goto M, Hoxha N, Osman R, Wen J, Wells RG, Dell KM. Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2010;50:639–44.
Article
CAS
PubMed
PubMed Central
Google Scholar
Goto M, Hoxha N, Osman R, Dell KM. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010;25:2449–57.
Article
PubMed
Google Scholar
ESCAPE Trial Group, Wühl E, Trivelli A, Picca S, Litwin M, Peco-Antic A, et al. Strict blood-pressure control and progression of renal failure in children. N Engl J Med. 2009;361:1639–50.
Article
Google Scholar
Chapal M, Debout A, Dufay A, Salomon R, Roussey G, Burtey S, et al. Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. Nephrol Dial Transplant. 2012;27:2083–8.
Article
PubMed
Google Scholar
Brinkert F, Lehnhardt A, Montoya C, Helmke K, Schaefer H, Fischer L, et al. Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. Transpl Int. 2013;26:640–50.
Article
CAS
PubMed
Google Scholar
Srinath A, Shneider BL. Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012;54:580–7.
Article
PubMed
PubMed Central
Google Scholar
Torres VE, King BF, Chapman AB, Brummer ME, Bae KT, Glockner JF, et al. Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol CJASN. 2007;2:112–20.
Article
PubMed
Google Scholar
Renken C, Fischer D-C, Kundt G, Gretz N, Haffner D. Inhibition of mTOR with sirolimus does not attenuate progression of liver and kidney disease in PCK rats. Nephrol Dial Transplant. 2011;26:92–100.
Article
CAS
PubMed
Google Scholar
Ren XS, Sato Y, Harada K, Sasaki M, Furubo S, Song JY, et al. Activation of the PI3K/mTOR pathway is involved in cystic proliferation of cholangiocytes of the PCK rat. PLoS One. 2014;9:e87660.
Article
PubMed
PubMed Central
Google Scholar
Sabbatini M, Russo L, Uccello F, Iaccarino A, Pisani A. Clinical treatment of polycystic kidney disease (APKD): do we need further suggestions from rodents? Nephrol Dial Transplant. 2011;26:2065–6.
Article
PubMed
Google Scholar
Stayner C, Shields J, Slobbe L, Shillingford JM, Weimbs T, Eccles MR. Rapamycin-mediated suppression of renal cyst expansion in del34 Pkd1-/- mutant mouse embryos: an investigation of the feasibility of renal cyst prevention in the foetus. Nephrol Carlton Vic. 2012;17:739–47.
Article
CAS
Google Scholar
Gattone VH, Wang X, Harris PC, Torres VE. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003;9:1323–6.
Article
CAS
PubMed
Google Scholar
Wang X, Gattone V, Harris PC, Torres VE. Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol JASN. 2005;16:846–51.
Article
CAS
PubMed
Google Scholar