Rare Disease 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

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)

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).

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.

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/NPHP RDG Annual Report 2019 – 2020

  • Mrs Nabeela Ahmed, NPHP Patient Representative
  • Prof Carsten Bergmann, Human Genetics, Freiburg, Germany
  • Mr Alasdair Brown, Arran Brown Rainbow Foundation
  • Dr Paraskevi Goggolidou, Molecular Genetics, Wolverhampton
  • Dr Tassos Grammatikopoulos, Paed Hepatologist, King’s
  • Ms Tess Harris, CEO PKD Charity
  • Dr Larissa Kerecuk, Paediatric Nephrology, Birmigham RDG Lead ARPKD
  • Dr Max Liebau, Paediatric Nephrology, Cologne/ARegPKD
  • Prof John Sayer, Genetic Medicine, Newcastle
  • Dr Shalabh Srivastava, Nephrologist, Genetics, Newcastle RDG Lead NPHP
  • Dr Roslyn Simms, Nephrology, Sheffield
  • Prof Patricia Wilson, Medicine, Experimental Nephrology, UCL Interim RDG Lead ARPKD
  • Dr Manish Sinha, Evelina Children's Hospital
  • Mrs Karen Stapleton, Patient Representative

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



NICE accredited clinical practice guidelines 

Available here

25th Annual Report

Analyses about the care provided to patients at UK renal centres.

Read the report

2022 UKRR AKI Report

A report on the nationwide collection of AKI warning test scores. 

Read the report