Genetic Prevention for Kidney Diseases

Module PRV13

Polycystic kidney disease is characterized by the formation of cysts in the kidney that are filled with fluid. If a genetic predisposition is known, various measures can be taken to delay and mitigate the onset of the disease and to avoid complications. These include, for example, avoiding medication that is harmful to the kidneys. If the disease occurs, it can also be counteracted at an early stage, for example, by adjusting and closely monitoring the blood pressure or using specific drug therapies.

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What Is Polycystic Kidney Disease?

A person usually has two kidneys, which are responsible for removing toxins and metabolic waste products from the body. They also regulate the body’s electrolyte and fluid balance as well as the blood pressure. The kidneys also play a role in other essential processes, such as the formation of red blood cells.

Section of the kidney

Figure 1: Section of the kidney. Viewed from the outside in, the kidneys can be divided into three areas: renal cortex, renal medulla, and renal pelvis.

A kidney can be divided into different areas. The primary urine is filtered from the blood and then concentrated in the renal cortex and the renal medulla. The urine produced in this process passes through the renal calices into the renal pelvis and, from there, via the ureter into the bladder. Surrounding the kidney there is the renal capsule, which protects the kidney and holds it in place (figure 1).

Polycystic kidney disease is a genetic disease in which cysts grow, e.g., in the kidneys (figure 2). This can impair kidney function and even lead to kidney failure. The impairment of the kidneys can also be accompanied by increased blood pressure and pain. Such cysts can also occur in other organs, like the liver or pancreas. In addition, this disease can lead to aneurysms in the brain and the aorta.

 Comparison between a cystic kidney and a healthy kidney

Figure 2: Comparison between a cystic kidney and a healthy kidney. The cysts penetrate the kidney tissue and thus restrict the function of the kidney.

 

Field Report

Sonja M., 30 years old

Lifestyle: normal sleeping pattern, healthy diet

Result: our analysis revealed a variant in the PKD1 gene in Sonja M., which can lead to polycystic kidney disease.

Consequence: Sonja M. now regularly visits the doctor and has her kidneys checked so that she can counteract any occurrence of the disease at an early stage and mitigate its progression.

„I am glad that I took the test. Now I can counteract a possible disease in good time. Also, my family can get tested to see if they have the same genetic predisposition. “

Sonja M. eine Variante im Gen PKD1, die zu einer polyzystischen Nierenerkrankung führen kann.

How Does Genetic Risk Assessment Work?

Polycystic kidney disease is a genetic disease that can be inherited. The disease is often only discovered late when many cysts have already grown in the kidneys and their function is already impaired. Therefore, early detection of an increased risk is important so that measures can be taken at an early stage and consequential damage can be avoided. We help to determine the genetic risk.

In the module Kidney Diseases, two genes are tested for variants that are associated with a hereditary increased risk for kidney diseases. If there is an increased risk, early detection measures and the adjustment of possibly existing medication can be useful. In the event of a disease, medication, if necessary, can be taken at an early stage to counteract kidney damage and secondary diseases.

Gene Set

Kidney Diseases (PRV13, 2 Genes)

PKD1, PKD2

You Are also Welcome to Take a Look at the Following Areas

Cardiovascular Diseases

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Diabetes

Familial diabetes mellitus can develop over years without symptoms appearing

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PRV team of CeGaT