Autosomal Dominant Tubulointerstitial Kidney Disease Due To Muc1 Mutations

Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is an inherited disorder that causes a gradual loss of kidney function.  This may lead to the need for dialysis or kidney transplant usually between the ages of 30 and 70. This condition is not associated with any symptoms outside of the kidney. ADTKD-MUC1 is caused by a mistake (mutation) in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function ADTKD-MUC1 is inherited in families in an autosomal dominant pattern. It is diagnosed based on laboratory testing, family history and genetic testing. Kidney failure may be treated with dialysis and kidney transplant. ADTKD-MUC1 is very rare. Some patients may do well for a long time without any symptoms and may not require kidney transplant or dialysis until later in life.