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Articles, 5 records found
Articles 5 records found  
8 p, 928.1 KB Recent advances in the clinical management of autosomal dominant polycystic kidney disease / Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. [...]
2019 - 10.12688/f1000research.17109.1
F1000Research, Vol. 8 (january 2019)  
8 p, 727.2 KB Rare diseases, rare presentations : recognizing atypical inherited kidney disease phenotypes in the age of genomics / Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. [...]
2017 - 10.1093/ckj/sfx051
Clinical Kidney Journal, Vol. 10 (july 2017) , p. 586-593  
12 p, 666.2 KB Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease : a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice / Gansevoort, Ron T. (University Medical Center Groningen, University of Groningen) ; Arici, Mustafa (Hacettepe University Faculty of Medicine) ; Benzing, Thomas (University of Cologne) ; Birn, Henrik (Aarhus University) ; Capasso, Giovambattista (Second University of Naples) ; Covic, Adrian (and 'Grigore T. Popa' University of Medicine. C.I. PARHON' University Hospital) ; Devuyst, Olivier (UCL Medical School) ; Drechsler, Christiane (University Hospital. University of Würzburg) ; Eckardt, Kai-Uwe (Friedrich-Alexander University Erlangen-Nürnberg (FAU)) ; Emma, Francesco (Bambino Gesù Children's Hospital-IRCCS) ; Knebelmann, Bertrand (Paris Descartes University. Hôpital Necker) ; Le Meur, Yannick (Hôpital La Cavale Blanche, Centre Hospitalier Régional Universitaire de Brest) ; Massy, Ziad A. (University of Paris Saclay and Paris Ouest-Versailles-Saint-Quentin-en-Yvelines (UVSQ)) ; Ong, Albert C.M. (University of Sheffield Medical School) ; Ortiz, Alberto (IIS-Fundacion Jimenez Diaz-UAM and REDINREN) ; Schaefer, Franz (Heidelberg University Hospital) ; Torra, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vanholder, Raymond (Ghent University Hospital) ; Więcek, Andrzej (Medical University of Silesia in Katowice) ; Zoccali, Carmine (CNR-IFC Clinical Epidemiology and Pathophysiology of Renal Diseases and Hypertension Unit, Reggio Calabria c/o Ospedali Riuniti) ; Van Biesen, Wim (Ghent University Hospital) ; Universitat Autònoma de Barcelona ; Institut Puigvert
Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease. [...]
2016 - 10.1093/ndt/gfv456
Nephrology Dialysis Transplantation, Vol. 31 (january 2016) , p. 337-348  
7 p, 1.3 MB Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated / Cabrera López, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Martí, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Català, Violeta (Institut d'Investigació Biomèdica Sant Pau) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Bissler, John J. (Pediatric Nephrology Department, Le Bonheur Children's Hospital, Memphis, TN USA) ; Harris, Peter C. (Department of Biochemistry and Molecular Biology, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN USA) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. [...]
2015 - 10.1186/s12881-015-0185-y
BMC Medical Genetics, Vol. 16 (june 2015)  
8 p, 343.5 KB Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry / Martínez, Víctor (Hospital Reina Sofia (Murcia, Espanya)) ; Comas, Jordi (Organització Catalana de Trasplantaments) ; Arcos, Emma (Organització Catalana de Trasplantaments) ; Díaz Gómez, Joan Manuel (Fundació Puigvert) ; Muray, Salomé (Hospital Reina Sofia (Murcia, Espanya)) ; Cabezuelo, Juan (Hospital Reina Sofia (Murcia, Espanya)) ; Ballarín Castan, José Aurelio (Organització Catalana de Trasplantaments) ; Ars Criach, Elisabet (Fundació Puigvert) ; Torra, Roser (Fundació Puigvert)
Background: Some 7-10% of patients on replacement renal therapy (RRT) are receiving it because of autosomal dominant polycystic kidney disease (ADPKD). The age at initiation of RRT is expected to increase over time. [...]
2013 - 10.1186/1471-2369-14-186
BMC Nephrology, Vol. 14, N. 186 (September 2013) , p. 1-8  

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