Autosomal Dominant Tubulointerstitial Kidney Disease

Rare Disease Group

The group was established as part of the RaDaR initiative, in light of the increasing numbers of families being identified with this syndrome and following the pioneering work undertaken by Dr Anne Simmonds and others in the Purine Laboratory at Guy’s Hospital, London.

On Saturday 23rd March 2013 a FUAN Patient Support meeting was held at St Thomas’ Hospital London. A report of the event can be found here.

An ADTKD/UMOD Patient Information Day was held in London on Saturday 15th September 2018. A summary and photos of the event can be found below. ADTKD/UMOD patient information day summary

Group members will offer to collaborate with other groups such as the European Network for the Study of Orphan Nephropathies (EUNEFRON) and the ERA-EDTA Working Group on Inherited Kidney Disorders (WGIKD)

Our international contacts are:

  • Dr Stanislav Kmoch, Centre for Applied Genomics, Institute for Inherited Metabolic disorders, Charles University, Prague, Czech Republic
  • Dr Anthony J. Bleyer, Professor, Section on Nephrology, Wake Forest University School of Medicine Winston-Salem, NC 27157, USA

Members of this group are linked to PUMPA (the Purine Metabolic Patients Association) which has a strong patient representation as well as medical experts.


Gast, C et al. 2018 Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease,BMC Nephrology201819:301

Connor TM et al. 2017 Mutations in mitochondrial DNA causing tubulointerstitial kidney disease, PLoS Genet, Mar 7;13(3):e1006620

Gast, C et al. 2016 Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis, Nephrol Dial Transplant, 31: 961

Venkat, R., 2016 From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis, Pediatr Nephrol, 31:2035142


ADTKD (FUAN) RDG Annual Report 2019 – 2020

  • Dr Abhijit Dixit, Consultant Clinical Geneticist, Nottingham
  • Dr Sarah Ennis, Human Genetics and Genomic Medicine, University of Southampton
  • Dr Christine Gast, Queen Alexandra Hospital, Portsmouth
  • Dr Rodney Gilbert, Southampton General Hospital
  • Prof. Fiona Karet, Cambridge Institute for Medical Research, Addenbrooke’s Hospital RDG Co-Lead
  • Dr Anthony Marinaki, St Thomas’ Hospital, London
  • Dr Shabbir Moochhala, Centre for Nephrology, Royal Free Hospital, London
  • Dr John Sayer, Institute of Genetic Medicine, Newcastle University RDG Co-Lead
  • Dr Holly Mabillard, Newcastle University
  • Angela Watt, Patient Representative


NICE accredited clinical practice guidelines 

Available here

25th Annual Report

Analyses about the care provided to patients at UK renal centres.

Read the report

2022 UKRR AKI Report

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

Read the report