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Autosomal dominant tubulointerstitial kidney disease due to REN mutations


Other Names:
FJHN type 2; REN-associated familial juvenile hyperuricemic nephropathy; REN-associated kidney disease; FJHN type 2; REN-associated familial juvenile hyperuricemic nephropathy; REN-associated kidney disease; Familial juvenile hyperuricemic nephropathy type 2; REN-associated kidney disease); ADTKD-REN; REN-associated FJHN; Hyperuricemic nephropathy, familial juvenile 2; ADTKD due to REN mutations; Autosomal dominant tubulointerstitial kidney disease, REN-related See More
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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.[1][2][3] 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.
Last updated: 2/25/2019
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.[1][4]
Last updated: 2/25/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Anemia
Low number of red blood cells or hemoglobin
0001903
Autosomal dominant inheritance 0000006
Chronic kidney disease 0012622
Focal segmental glomerulosclerosis 0000097
Hyperechogenic kidneys 0004719
Hyperuricemia
High blood uric acid level
0002149
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Renal tubular atrophy 0000092
Tubulointerstitial fibrosis 0005576
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Last updated: 7/1/2020
Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is inherited in an autosomal dominant pattern.[1][2][3] 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: 2/25/2019
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.[5][4]
Last updated: 2/25/2019
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.[5][4]
Last updated: 2/25/2019
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.[4]
Last updated: 2/25/2019
Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is very rare, with less than 20 families reported worldwide.[1]
Last updated: 2/25/2019

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

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  1. Kmoch S, Zivna M, Bleyer AJ. Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related. GeneReviews. Updated Dec. 29, 2015; https://www.ncbi.nlm.nih.gov/books/NBK53700.
  2. Autosomal dominant tubule-interstitial kidney disease. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/autosomal-dominant-interstitial-kidney-disease/.
  3. REN-related kidney disease. Genetics Home Reference (GHR). Jan 2010; https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease.
  4. Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Kidney Disease: Improving Global Outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. Oct 2015; 88(4):676-683. https://www.ncbi.nlm.nih.gov/pubmed/25738250.
  5. Bleyer A. Autosomal dominant tubulointerstitial kidney disease (medullary cystic kidney disease). UpToDate. Waltham, MA: UpToDate; Updated Dec. 5, 2018; https://www.uptodate.com/contents/autosomal-dominant-tubulointerstitial-kidney-disease-medullary-cystic-kidney-disease.