Read some publications or watch a webinar to see if you might have ADTKD.
Researchers at Wake Forest School of Medicine and the First Faculty of Medicine of Charles University in Prague, working with families around the world.
If a combination of these applies to you, you could have ADTKD.
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is a rare group of genetic disorders where a specific gene mutation results in a progressive degradation of kidney function. Currently, there are three main conditions that make up the vast majority of ADTKD cases:
UMOD
UMOD Kidney Disease, also known as UKD or ADTKD-UMOD, is caused by a mutation in the UMOD gene that codes for the uromodulin protein. UKD makes up a majority of the ADTKD cases. Individuals with UKD may suffer from gout, especially from an early age.
MUC1
Mucin-1 Kidney Disease, also known as MKD or ADTKD-MUC1, is caused by a mutation in the MUC1 gene that codes for the mucin-1 protein. MKD makes up around 30% of ADTKD cases, lacks notable distinguishing characteristics besides kidney failure, and is only diagnosable through genetic testing.
REN
ADTKD-REN is caused by mutations in the REN gene that codes for the renin protein. It is the rarest subtype of ADTKD. Individuals with ADTKD-REN may present in childhood with low blood pressure, anemia, mild hyperkalemia (high potassium), and hyperuricemia (high uric acid).
Click here for a free estimation of your future kidney function (GFR).
Our mission has always been to help one patient, one family at a time.The Wake Forest Rare Inherited Kidney Disease Team
The team has been referred more than 1,300 families.
It has identified over ten novel genetic causes of kidney disease.
With Charles University in Prague, it has published over 70 papers on ADTKD genetics.