REN - related kidney, disease ... (REN-related kidney disease) - Gen REN
Kidney disease associated with REN is an inherited entity affecting renal function and that causes a slowly progressive renal disease that usually becomes evident during childhood. As the disease progresses, the kidneys become less able to filter liquids and waste products of the body, leading to kidney failure. Individuals with renal disease associated with REN generally require dialysis or kidney transplantation between 40 and 70 years.
Signs and symptoms of kidney disease related to REN may include low blood pressure, hyperkalemia, anemia of childhood onset that can lead to pale skin, weakness , and fatigue; and high concentrations of uric acid in blood. Normally, the kidneys remove uric acid from the blood and transferred to urine so it can be excreted from the body, but in renal disease related to REN, the kidneys can not effectively eliminate uric acid from the blood. A buildup of uric acid can cause gout. Individuals with kidney disease related to REN may begin to manifest the signs and symptoms of gout around twenty.
This process is due to mutations in the gene REN (rennin), located on the long arm of chromosome 1 (1q32) encoding renin protein produced in the kidneys. This protein is part of the renin-angiotensin system that regulates blood pressure and fluid balance and salts in the body. In the first step of this process, renin converts a protein called angiotensinogen to angiotensin I. Through an additional step, angiotensin I is converted into angiotensin II. Angiotensin II causes blood vessels to constrict, which results in increased blood pressure. Angiotensin II also stimulates aldosterone production, which triggers the absorption of salt and water by the kidneys. Increasing the amount of fluid in the body also increases blood pressure. Adequate blood pressure during fetal growth, which supplies oxygen to the tissues developing for proper kidney development, particularly of the proximal tubules, and other tissues required. In addition, angiotensin II may play a more direct role in kidney development, perhaps by affecting the growth factors involved in the development of renal structures.
Have been recognized at least four mutations in the gene responsible for REN related kidney disease REN People with this condition have a mutated copy and one normal copy of the gene in every cell REN. Mutations implicated in kidney disease of REN or change, or delete an amino acid in the protein renin. These changes occur in a region of the protein known as the signal sequence, and are detrimental to normal processing renin. The abnormal protein is toxic to cells that normally produce renal renin. Renin producing cells gradually die, interrupting the renin-angiotensin system and causes progressive kidney disease.
Kidney disease associated with REN is inherited in an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to express the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with kidney disease of REN, by complete PCR amplification of the exons of the gene REN, 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).