Is Kidney Disease Affecting Your Family?
Read some publications or watch a webinar to see if you might have ADTKD.
What is ADTKD?
If you have a familial history of kidney disease (dialysis or transplant required), you suffer from chronic kidney disease without blood or protein in the urine and/or have suffered from childhood gout, 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 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 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 Kidney Disease (REN Mutations):
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).