• Aims of the Group

    The Autosomal Recessive Polycystic Kidney Disease (ARPKD)/Nephronophthisis (NPHP) Rare Disease Group (RDG) aims to:

    • Develop and advocate best practice guidelines for the treatment of ARPKD and NPHP
    • Provide up-to-date, best practice patient information and group support
    • Support research into basic science, genetic, translational, psychosocial and clinical aspects of ARPKD and NPHP
    • Foster collaborations with European and international groups and partners
  • Current Activities

    Patient events

    The PKD Charity hold regular Patient Information Days around the United Kingdom. Details of future events will be posted here when they are announced.

    Presentations from previous events can be found below.





    Research Resources, Awards and Activities

    Funder: PKD Charity

    Title of project: ARPKD RaDaR Award: specialist nurse to increase recruitment and enrich data .   Bioresource Bank

    Principal Investigator(s): Prof P. Wilson Amount: £30,000

    PhD studentship to study ARPKD Mechanisms: PKD charity, T. Richards, University Wolverhampton. Supervisor P.   Goggolidou


    Funder: CRN NIHR WM and PKD Charity

    Title of project: Stars Together Rare Disease Registry

    Principal Investigator(s): Larissa Kerecuk (CI)

    Amount: £20000

    PKD Bioresource Bank at UCL/Royal Free Hospital, London (sponsored by PKD Charity & Aaron Brown Rainbow Foundation, director Prof. P. Wilson) PhD Studentship to study genomics of ARPKD (sponsored by PKD Charity & Aaron Brown Rainbow Foundation, supervisor Dr. P. Goggolidou) ARPKD RaDaR award: to increase and enrich data from Children with PKD (sponsored by PKD Charity, director Prof. P. Wilson)

  • International Links

    To harmonise data collection across Europe and internationally the ARPKD/NPHP-RDG has established links with established European and US registries: ARegPKD  Europe (director Dr. M. Liebau) and US Hepato/Renal Fibrocystic Diseases Translational Resource (director Prof L. Guay-Woodford).

  • Patient Support Groups

    The ARPKD/NPHP RDG works closely with the PKD Charity, led by Tess Harris, CEO and Alan Greenberg, chairman. There is also a very active Facebook group that users can request to join.

  • Reports

    Publications (last 5 years)

    Cilia in Kidney Development and Disease P Goggolidou. In “Cilia: Development and Disease”, Taylor & Francis, New York pp 97-118 (2018) ISBN 9781498703680. ARPKD Poster ECRD M Kokocinska, (2018)

    Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2. O Cabezas, S Flanagan, H Stanescu, E Garcia.Martinez, R Caswell, H Lango-Allen, A Monserrat, J Argente, A Bussell, A Brandii, C Cheshire, L Crowne, S Dumitriu, R Drynda, J Hamilton-Shield, W Hayes, A Hofherr, D Iancu, N Issler, C Jeffires, P Jones, M Johnson, A Keselheim, R Klootwijk, M Kottgen, W Lewis, J Martos M Mozere, J Norman, V Patel, A Parrish, C Perez-Cerda, J Pozo, S Rahman, S Neils, M Tekman, P Turnpenny, W Van’t Hoff, D Viering, M Weedon, P Wilson, L Guay-Woodford, R Kleta, K Hussain, S Ellard, D Bockenhauer  J Am Soc Nephrol. 28: 2529-2539 (2017)

    ARPKD Poster UK Kidney week. M Kokocinska (2017)  Novel biomarkers in kidney disease: the role of cilia and Wnt signalling in polycystic kidney disease. P Goggolidou, PD Wilson Biochem Soc Trans. 44:1745-1751 (2016) ARPKD Poster PNA M. Kokocinska (2016)

    Kidney Versus Combined Kidney and Liver Transplantation in Young People with Autosomal Recessive Polycystic Kidney Disease: Data from the European Society for Pediatric Nephrology/European Renal Association2European Dialysis and Transplant (ESPN/ERA-EDTA) Registry. Mekahli et al Am J Kidney Dis (2016)

    Atmin mediates kidney morphogenesis by modulating Wnt signalling. P Goggolidou, NF Hadjirin A Bak , E Papakrivopoulou, H Hilton, DP Norris, CH Dean Human Molecular Genetics 23: 5303-5316 (2014)

    Wnt and planar cell polarity signalling in cystic renal disease. P Goggolidou Organogenesis, 10: 86-95 (2014)

    Additional Reading

    Reviews/Book Chapters

    The pathology of human renal cystic disease. PD Wilson, D Falkenstein In: Current Topics in Pathology. S Dodd (editor) Springer-Verlag  88:1-50 (1995)       

    Molecular and cellular aspects of polycystic kidney disease. PD Wilson New Engl. J. Med.  350:151-164 (2004)

    Polycystic Kidney Diseases PD Wilson, B Goilav Annual Review of Pathology: Mechanisms of Disease 2: 341-368 (2007)

    Mouse Models of Developmental Genetic Disease. PD Wilson In Current Topics in Developmental Biology 84: (R. Krauss, Editor, Elsevier), pp 311-350 (2008)

    In vitro Methods in renal research. PD Wilson   In Pediatric Nephrology 6th edition, editors: Avner, Harmon, Niaudet. Lippincott, Williams & Wilkins (2009)

    Research articles

    Na Transport in autosomal recessive polycystic kidney disease (ARPKD) cyst lining epithelial cells. R Rohatgi, A Greenberg, C Burrow, PD Wilson, LM Satlin   J. Am. Soc. Nephrol. 14: 827-836 (2003)

    The autosomal recessive polycystic kidney disease protein is localized to the primary cilia with concentration in the basal body area. S Wang, Y Luo, P Wilson, G Witman, J Zhou J Am Soc Nephrol 15: 592-602 (2004)

    Pathways of apoptosis in human autosomal recessive and autosomal dominant polycystic kidney disease. B Goilav L Satlin, PD Wilson Pediatric Nephrol 23:1473-1482 (2008)  

    Mechanoregulation of intracellular Ca2+ signaling in ARPKD cells. R Rohatgi L Battini, P Kim, PD Wilson, GL Gusella, L Satlin   Am. J. Physiol. Renal Physiol. 294: F890-F899 (2008)

    Focal adhesion complex abnormalities in human autosomal recessive polycystic kidney disease (ARPKD). S Israeli, N Zheleznova, K Amsler, PD Wilson Am. J. Physiol: Cell Physiol. 298: C831-846 (2010)

    Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. J Zhang, M Wu, S Wang, J Shah, PD Wilson, J Zhou  Hum Molec Genet 19: 3306-3319 (2010)

    Epidermal growth factor-mediated proliferation and sodium transport in normal and PKD epithelial cells. N Zheleznova, PD Wilson, A Staruschenko Biochim. Biophys Acta, Mech Dis. 1812: 1301-1313 (2011)

    ARPKD Clinical Consensus Statements

    Consensus expert recommendations for the diagnosis and management of Autosomal Recessive Polycystic Kidney Disease: Report of an international conference.   LM Guay-Woodford, JJ Bissler, MC Braun, D Bockenhauer, MA Cadnapaphornchai, KM Dell, L Kerecuk, MC Liebau, MH Alonso-Peclet, B Schneider, S Emre, T Heller, BK Kamath, KF Murray, K Moise, EE Eichenwald, J Evans, RL Keller, L Wilkins-Haug, C Bergmann, M Gunay-Aygun, SR Hooper, KK Hardy, EA Hartung, R Streisand, R Perrone, M Moxey-Mims.  J. Pediatr 165: 611-617 (2014)

    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a first National Institutes of Health/Office of Rare Diseases conference. M Gunay-Aygun, ED Avner, R Bacallao, PL Choyke, JT Flynn, GG Germino, L Guay-Woodford, P Harris, T Heller, J Ingelfinger, F Kaskel, R Kleta, NF LaRusso, P Mohna, GJ Pazour, BL Schneider, VE Torres, PD Wilson, C Zak, J Zhou, W Gahl  J Pediatr 149:159-64 (2006)

    PKD Charity leaflet

    Autosomal Recessive Polycystic Kidney Disease (ARPKD) – a guide for parents


    ARPKD RDG Report 2012

    ARPKD RDG Report 2013

    ARPKD RDG Report 2014

    ARPKD RDG Annual Report 2015 – 2016

    ARPKD RDG Annual Report 2016 – 2017

    ARPKD RDG Annual Report 2017 – 2018

    ARPKD/NPHP RDG Annual Report 2018 – 2019

  • Group Members
    • Mrs Nabeela Ahmed, Patient Representative
    • Prof Carsten Bergmann, Professor of Human Genetics, Germany
    • Dr Detlef Bockenhauer, Great Ormond St Hospital, London
    • Alasdair Brown, Arran Brown Rainbow Foundation
    • Professor Stewart Fleming, Professor of Cellular and Molecular Pathology, University of Dundee
    • Dr Daniel Gale, Clinical Lecturer in Nephrology, London
    • Dr Paraskevi Goggolidou, Wolverhampton University
    • Tess Harris, Chair of PKD Charity, President of PKD International and Director of Ciliopathy Alliance, London
    • Prof. Deirdre Kelly, Consultant Paediatric Hepatologist, Birmingham Children’s Hospital
    • Dr Larissa Kerecuk, Dept. Paediatric Nephrology, Birmingham RDG Lead ARPKD
    • Professor Robert Kleta, Chair of Nephrology, University College London
    • Max Liebau, Paediatric Nephrologist, Cologne, Germany representing ARegPKD
    • Dr Patrick McKiernan, Consultant Paediatric Hepatologist, Birmingham Children’s Hospital
    • Dr. Richard Sandford, University Reader in Renal Genetics, Addenbrooke’s Hospital
    • Prof John Sayer, Institute of Genetic Medicine, Newcastle University
    • Dr Shalabh Srivastava, Consultant Nephrologist, Institute of Genetic Medicine, Newcastle University RDG Lead NPHP
    • Dr Roslyn Simms, Clinical Research Fellow, Sheffield University
    • Arie Stangou, Consultant Hepatologist, University Hospital Birmingham
    • Prof Karlijn van Stralen, Coordinator ESPN/ERA-EDTA Registry
    • Prof. Patricia Wilson, Professor of Medicine, London Interim RDG Lead ARPKD
    • Paul Winyard, Head of the Nephro-Urology Research Unit, ICH
  • Disclosure of Conflicts of Interest

    Funding support for the 2012 patient Information Day was provided by Amgen, Astellas and Fresenius

    Individual members’ conflicts of interest are listed below.


    Conflict of Interest

    Detlef Bockenhauer

    Received consultancy fees from Otsuka

    Danny Gale

    MRC, Rosetrees Trust and St Peter’s Trust

    Paraskevi Goggolidou

    Kingston University and MRC Harwell

    Tess Harris

    Represents charities funded by public donation

    John Sayer

    Glaxosmithkline, KRUK

    Roslyn Simms

    Aoife Waters


    Pat Wilson

    Kidney Research UK, PKD charity UK, Rosetree’s Trust and St Peter’s Trust

ARPKD/NPHP RDG Version 13 Updated April 2019
Written by the ARPKD/NPHP Rare Disease Group