INFORMATION FOR HEALTH PROFESSIONALS
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is a group of autosomal dominant kidney diseases with inflammation throughout the kidney but not in the glomeruli.
It was previously called “Medullary Cystic Kidney Disease” or “Familial Juvenile Hyperuciaemic Nephropathy”.
Link to Gene Reviews or Guidelines
- Gene Reviews – ADTKD – UMOD-Related
- Gene Reviews – ADTKD – REN-Related
- Gene Reviews – ADTKD – MUC1-Related
Further Information
- Trudu, M., C. Schaeffer, et al. (2017). “Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.” Scientific Reports 7(1): 7383.
More detailed Information for Health Professionals will be available on the ARRK website in the near future.
If you would like to form or be part of a Disease Specific Research Group (DSRG) for ADTKD, please contact the ARRK registry (arrkregistry1@gmail.com) or Dr Hugh McCarthy (hugh.mccarthy@health.nsw.gov.au).
The resources on this page provide information for healthcare professionals. If you have questions about a medical condition or health related issue, please consult your medical doctor or a healthcare professional.
This page was last updated on 24th Oct, 2018.