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Disease Profile

Autosomal dominant tubulointerstitial kidney disease due to REN mutations

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

FJHN type 2; REN-associated familial juvenile hyperuricemic nephropathy; REN-associated kidney disease;


Congenital and Genetic Diseases; Kidney and Urinary Diseases


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.


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 gouta 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]

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.

Medical Terms Other Names
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Percent of people who have these symptoms is not available through HPO
Low number of red blood cells or hemoglobin
Autosomal dominant inheritance
Chronic kidney disease
Focal segmental glomerulosclerosis
Hyperechogenic kidneys
High blood uric acid level
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

Renal tubular atrophy
Tubulointerstitial fibrosis


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]


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]


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

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    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. 


      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.

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