HNF1B – RDG

  • Aims of the Group

    The HNF1B rare disease group (RDG) covers all diseases associated with mutations and deletions in this gene. These include renal developmental disorders, most commonly renal cysts. The most common problem outside the kidneys is diabetes. When diabetes and renal cysts occur together this is known as the renal cysts and diabetes (RCAD) syndrome. Other clinical features may include hyperuricaemia and gout, hypomagnesaemia, abnormal liver function tests, pancreatic exocrine deficiency and genital tract malformations.

    We aim to increase clincians’ awareness of these presentations, improve recognition and streamline diagnosis, particularly at a genetic level. To do this we are studying genetic information on patients with well-defined clinical features. We hold open meetings to inform and support patients and their families.

  • Current Activities

    The first HNF1B patient information day was held in September 2012. Presentations are available here

    The second patient information day took place on Saturday 27th February 2016 at the Nowgen Centre, 29 Grafton Street, Manchester. Presentations are available here.

  • International Links

    Pending

  • Patient Support Groups
  • Reports

    Publications

    Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C (2016): Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney International 90:203-211

    Bockenhauer D, Jaureguiberry G (2016): HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol 31(5): 707-14

    Reports

    HNF1B RDG Report 2012

    HNF1B RDG Report 2013

    HNF1B RDG Report 2014

    HNF1B RDG Report 2015 – 2016

    HNF1B RDG Report 2016 – 2017

  • Group Members
    • Dr Shazia Adalat, Research Fellow, UCL
    • Dr Coralie Bingham, Adult Nephrologist, Exeter RDG Lead
    • Dr Detlef Bockenhauer, Paediatric Nephrologist ,GOSH
    • Dr Rhian Clissold, Research Fellow, Exeter
    • Prof Sian Ellard, Head of Molecular Genetics Lab, Exeter
    • Dr Sally Feather, Paediatric Nephrologist, Leeds
    • Dr Kate Hillman, Adult Nephrologist, Manchester
    • Dr Larissa Kerecuk, Paediatric Nephrologist, Birmingham
    • Mr Grant King, Patient Representative
    • Dr John Sayer, Adult Nephrologist, Newcastle
    • Prof Neil Turner, Adult Nephrologist, Edinburgh
    • Dr Paul Winyard, Fetal Medicine and Neonates, UCL
    • Prof Adrian Woolf, Manchester Renal Genetics Clinic
  • Disclosure of Conflicts of Interest

    None reported

HNF1B RDG Version 5 Updated April 2017
Written by the HNF1B Rare Disease Group