Rare Disease Database

Synonyms

• Familial juvenile hyperuricemic nephropathy type 2
• REN-associated kidney disease)
• ADTKD-REN
• REN-associated FJHN
• Hyperuricemic nephropathy, familial juvenile 2
• FJHN type 2
• REN-associated familial juvenile hyperuricemic nephropathy
• REN-associated kidney disease
• ADTKD due to REN mutations
• Autosomal dominant tubulointerstitial kidney disease, REN-related

Overview

Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is an inherited disorder that causes anemia, mildly low blood pressure, and an increased chance to develop kidney failure in childhood. In the teenage years, patients may develop a painful type of arthritis called gout. As an adult, the anemia improves but patients develop slowly progressive chronic kidney disease, which may lead to the need for dialysis or kidney transplantation between 40 and 80 years of age.[14425][15291][15292] ADTKD-REN is caused by a mistake (mutation) in one copy of the REN gene. This mistake leads to a decreased production of normal renin and the deposition of abnormal renin in kidney cells, leading to slow loss of kidney function. ADTKD-REN is inherited in families in an autosomal dominant pattern. It is diagnosed based on the symptoms, family history and genetic testing. Many of the symptoms of ADTKD-REN can be treated with medicines. For patients who develop end-stage kidney failure, dialysis or kidney transplant can be performed. Patients with this condition generally have a good long-term outlook, although individuals with ADTKD-REN may require kidney transplant or dialysis later in life.

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