Dent & Lowe – RDG

  • Aims of the Group

    The group aims to advance our knowledge of Dent Disease, Lowe Syndrome and other forms of primary renal Fanconi 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
  • Current Activities

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

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

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

  • Reports
  • Group Members
    • Dr Detlef Bockenhauer, UCL Institute of Child Health and Great Ormond Street Hospital London RDG Lead
    • 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 
  • Disclosure of Conflicts of Interest

    None reported

Dent Disease & Lowe Syndrome RDG Version 6 Updated February 2017
Written by the Dent Disease & Lowe Syndrome Rare Disease Group