If you believe that you or a loved one may have ADTKD, contact us now!

Is Kidney Disease Affecting Your Family?

Read some publications or watch a webinar to see if you might have ADTKD.

Rare Inherited Kidney Disease Research Team seal: three figures in front of a globe, with the words Helping one patient, one family at a time.

Researchers at Wake Forest School of Medicine and the First Faculty of Medicine of Charles University in Prague, working with families around the world.

What is ADTKD?

  • a familial history of kidney disease (dialysis or transplant required)
  • chronic kidney disease without blood or protein in the urine
  • a history of childhood gout

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 (UKD)

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

MUC1 Kidney Disease (MKD)

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

REN Kidney Disease (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).

Ten members of the Wake Forest Rare Inherited Kidney Disease Team standing together outdoors on a brick courtyard.
Our mission has always been to help one patient, one family at a time.
The Wake Forest Rare Inherited Kidney Disease Team
Meet the 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.