Dent Disease & Lowe Syndrome

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.

  • 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 

Guidelines

NICE accredited clinical practice guidelines 

Available here

22nd Annual Report

Analyses about care provided to patients at UK renal centres.

Read the report

UKRR AKI Report

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

Read the report