Rare Disease Group

The group aims to advance our knowledge of Dent Disease and Lowe Syndrome by:

  • establishing a registry of patients
  • developing clinical guidelines regarding diagnosis and treatment
  • providing a platform for clinical and molecular research into these disorders
  • empowering affected patients and their families by facilitating contacts between patient/families and by the development of educational material

Condition-specific data fields for Dent & Lowe patients in the RaDaR rare disease registry are currently being coded.

  • Prof Michael Ludwig, German Lowe/Dent patient registry
  • Dr Arend Bokenkamp, Dutch Lowe/Dent patient registry
  • Dr Lada Beasic, US registry for Dent disease

The Lowe Trust supports families and initiates and funds medical research into Lowe Syndrome.

Publications

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Zaniew, M. et al (2016) Nephrol Dial Transplan.

Reports

Dent & Lowe RDG Annual Report 2019 – 2020

RDG Lead(s)
  • Dr Detlef Bockenhauer, UCL Institute of Child Health and Great Ormond Street Hospital London RDG Lead
Patient representative(s)
Other members
  • Prof Helen Cross, UCL Institute of Child Health, London
  • Prof Robert Kleta, UCL Institute of Child Health, London
  • Ms Isabelle Russell-Eggitt, Great Ormond Street Hospital, London
  • Dr Jenny Shorto, Manchester Regional Genetics Services, St Mary’s Hospital, Manchester
  • Prof Rajesh Thakker, Radcliffe Department of Medicine, University of Oxford
  • Dr Andrew Wallace, Manchester Regional Genetics Services, St Mary’s Hospital, Manchester

None reported