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Don’t fight Autosomal dominant tubulointerstitial kidney disease due to REN mutations alone.
Find your community on the free RareGuru App.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. 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.
Source: GARD Last updated on 05-01-20
The symptoms of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) are age-dependent. In childhood, patients may have anemia, low blood pressure and mildly high blood levels of potassium, uric acid, and creatinine. When young individuals with ADTKD-REN develop a fever or viral illness and are treated with a medication like ibuprofen, they may develop a sudden (acute) decrease in kidney function. Medical treatment will result in a return of kidney function to its prior levels. In the teenage years, patients may develop gout, a painful arthritis (joint inflammation) that often occurs in the big toe, ankle, or knee. In adulthood, worsening kidney function may lead to the need for dialysis between ages 40 and 80.
Last updated on 05-01-20
The diagnosis of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is made based on the symptoms, specific laboratory testing, a family history of kidney disease or gout, and genetic testing.
Last updated on 05-01-20
Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. In autosomal dominant conditions, having a mutation in just one copy of the REN gene causes the person to have the disease. Some people are born with an autosomal dominant condition due to a new genetic mutation (de novo) and do not have a history of this condition in their family. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the REN mutation and ADTKD-REN. Children who inherit the REN mutation will have ADTKD-REN. They may be more or less severely affected than their parent.
Last updated on 05-01-20
The long-term outlook for people with autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is good, though patients will often need a kidney transplant or start dialysis between the ages of 40 and 80. At this point, it is difficult to predict at what age patients will develop end-stage kidney failure.
Last updated on 05-01-20
Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is very rare, with less than 20 families reported worldwide.
Last updated on 05-01-20
Treatment for autosomal dominant tubule-interstitial kidney disease due to REN mutations (ADTKD-REN) is based on managing the symptoms. The medication erythropoietin is very effective in treating the anemia that occurs in childhood. Gout can also be prevented with medications such as allopurinol or febuxostat. Fludrocortisone has been shown to improve low blood pressure and high potassium levels in ADTKD-REN and theoretically may slow progression of ADTKD-REN. Eventually, patients may need a kidney transplant or dialysis. Live donor kidney transplantation is the optimal treatment for worsening kidney disease, and patients who undergo kidney transplant for this condition do extremely well. The condition does not come back in the transplanted kidney.
Last updated on 05-01-20
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