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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

REN-related kidney disease

Reviewed January 2010

What is REN-related kidney disease?

REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70.

People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence.

Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties.

How common is REN-related kidney disease?

REN-related kidney disease is a rare condition. At least three families with this condition have been identified.

What genes are related to REN-related kidney disease?

Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body.

Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. These kidney cells gradually die off, which causes progressive kidney disease.

Related Gene(s)

Changes in this gene are associated with REN-related kidney disease.

  • REN

How do people inherit REN-related kidney disease?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Where can I find information about diagnosis or management of REN-related kidney disease?

These resources address the diagnosis or management of REN-related kidney disease and may include treatment providers.

  • Gene Review: Familial Juvenile Hyperuricemic Nephropathy Type 2 (
  • Genetic Testing Registry: Hyperuricemic nephropathy, familial juvenile, 2 (
  • MedlinePlus Encyclopedia: Hyperkalemia (
  • MedlinePlus Encyclopedia: Renin (

You might also find information on the diagnosis or management of REN-related kidney disease in Educational resources ( and Patient support (

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook. Read more about genetic testing (, particularly the difference between clinical tests and research tests (

To locate a healthcare provider, see How can I find a genetics professional in my area? ( in the Handbook.

Where can I find additional information about REN-related kidney disease?

You may find the following resources about REN-related kidney disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for REN-related kidney disease?

  • Familial juvenile hyperuricemic nephropathy 2

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines ( and How are genetic conditions and genes named? ( in the Handbook.

What if I still have specific questions about REN-related kidney disease?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding REN-related kidney disease?

anemia ; arthritis ; autosomal ; autosomal dominant ; cell ; dialysis ; familial ; gene ; gout ; hyperkalemia ; inherited ; juvenile ; kidney ; nephropathy ; potassium ; protein ; toxic ; uric acid

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (


  • Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT. Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Am J Kidney Dis. 2011 Nov;58(5):821-5. doi: 10.1053/j.ajkd.2011.06.029. Epub 2011 Sep 8. (
  • Bleyer AJ, Zivná M, Hulková H, Hodanová K, Vyletal P, Sikora J, Zivný J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol. 2010 Dec;74(6):411-22. (
  • Gene Review: Familial Juvenile Hyperuricemic Nephropathy Type 2 (
  • Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: January 2010
Published: March 23, 2015