Rare Disease 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.
HNF1B (Hepatic Nuclear Factor 1B Mutation) Support Day, Saturday 15th May 2021
This was the HNF1B rare disease group's first virtual HNF1B support day for patients, families and interested clinicians.
It was a chance to meet others and share experiences, there were talks from a panel of experts with the opportunity to ask questions. Bringing people together to develop UK patient support network.
List of talks available to download:
1_HNF1B patient perspective 2021
2_HNF1B kidneys in children and adults 2021
3_HNF1B autism spectrum disorder part 1 2021
4_HNF1B autism spectrum disorder part 2
7_HNF1B research update part 1
Pending
Publications
Dr Coralie Bingham presented an update on HNF1B at the rare disease session at UKKW in Harrogate 2018.
Prof Adrian Woolf presented preliminary results on growing mini-kidneys in a dish from HNF1B patient stem cells at the European Society of Paediatric Nephrology (Turkey 2018) and at the HNF1B family day (Bristol 2018)
Clissold RL, Harries LW, Ellard S, Bingham C, Hattersley AT (2018): Comment on Dubois-Laforgue et al. diabetes, associated clinical spectrum, long-term prognosis, and genotype/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care 40:1436-1443. Diabetes Care 41:e7
Clissold RL, Fulford J, Kinsella D, Hudson M, Shields B, McDonald T, Ellard S, Hattersley AT, Bingham C (2018): Exocrine pancreatic dysfunction is common in HNF1B-associated renal disease and can be symptomatic. Clinical Kidney Journal 01.18
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
- 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
None reported
