Hyperuricemic uromodulin associated nephropathy (kidney disease-associated Uromodulin) - Gen UMOD.
The hyperuricemic uromodulin associated nephropathy, or kidney disease associated with uromodulin, is an inherited disease that affects the kidneys. Signs and symptoms of this disease vary, even among members of the same family.
Many individuals with the disease have elevated levels of uric acid, because the kidneys can not eliminate uric acid from the blood effectively. The accumulation of uric acid can cause gout. Signs and symptoms of gout associated with the disease can occur from adolescence. The kidneys become less able to filter fluids and waste products of the organism and alteration progresses, leading to kidney failure. In general, individuals with the disease often require dialysis between the ages of 30 and 70. Sometimes those affected have small kidney or renal cysts.
This process is due to mutations in the gene UMOD, located on the short arm of chromosome 16 (16p12.3). This gene codes uromodulin protein, which is produced by the kidneys and are subsequently eliminated from the body through urine. It is believed that uromodulin can protect against urinary tract infections and help control the amount of water in the urine.
They have identified more than 40 mutations causing UMOD hyperuricemic nephropathy associated with uromodulin gene. Most of these mutations change the amino acids found in uromodulin. These mutations alter the structure of the protein, preventing release of the renal cells. Abnormal accumulation of uromodulin can trigger apoptosis of renal cells, causing progressive kidney disease.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has a parent with the disorder.
Tests in IVAMI: in IVAMI perform detection of mutations associated with uromodulin hyperuricemic associated nephropathy, by complete PCR amplification of exons UMOD gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).