Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

Disease Overview

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD–UMOD) is an inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. Gout is a form of arthritis (inflammation) that occurs often in the big toe, ankle, knee, or other joints.[14423][14426][15283] ADTKD-UMOD is caused by a mistake (mutation) in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. ADTKD-UMOD is inherited in a dominant pattern in families. It is diagnosed based on the symptoms, laboratory testing, family history and genetic testing. Many of the symptoms of ADTKD-UMOD can be treated with medication. For patients whose kidney function worsens to end-stage kidney disease, kidney transplant and dialysis can be used. The long-term outlook for people with ADTKD-UMOD is good, though patients may require dialysis or kidney transplantation between the ages of 30 and 70.[14423][14426]

Synonyms

• UMOD-related autosomal dominant tubulointerstitial kidney disease
• Uromodulin-associated kidney disease
• Autosomal dominant medullary cystic kidney disease type 2
• MCKD2
• Familial juvenile hyperuricemic nephropathy type 1
• Uromodulin kidney disease
• ADTKD due to UMOD mutations
• Familial Juvenile Hyperuricemic Nephropathy 1
• UMOD-Associated Kidney Disease
• Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related
• ADTKD-UMOD
• Autosomal dominant medullary cystic kidney disease type 2 (former)
• UMOD-related ADTKD
• Medullary cystic kidney disease 2 (former)