Familial gouty nephropathy is a rare genetic disorder that involves problems with the kidneys. In individuals with this condition, there are high levels of a product called uric acid, which is usually transferred from the blood to the urine by kidneys. However, in this condition, the kidneys cannot remove uric acid from the blood and leads to the formation of gout, which is the buildup of uric acid in joints. As a result, individuals with this condition experience arthritis-like symptoms (gout) that involves pain and swelling of joints. However, symptoms may be very different among individuals, even if they are in the same family. This disease appears at an early age. It may eventually end up in failure of the kidneys (renal failure) that typically occurs around ages 40 through 70. Disease of the kidneys can start as early as the individual’s teenage years.
Familial gouty nephropathy is a genetic condition caused by changes in the UMOD gene. Our genes are what control the growth, development and function of our bodies. When there are changes (mutations) in the UMOD gene, familial gouty nephropathy results. This condition is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.
This condition is typically diagnosed by looking at symptoms and by looked at levels of different substances in the blood that can provide doctors with information about kidney function. Additionally, genetic tests may be performed to look for changes in the UMOD gene. Treatment usually involved medications given to help prevent the formation of gout, monitoring kidney function by a specialist, and evaluating for symptoms of chronic kidney disease. In extreme cases, kidney transplants may be performed.
Description Last Updated: Feb 25, 2018