Polycystic kidney disease (PKD) is a kidney condition where a person develops multiple benign cysts in the kidneys and other organs. Cyst growth in the kidneys can lead to kidney failure over time as normal, healthy tissue is replaced.

The most common type of this condition is autosomal dominant PKD (ADPKD). ADPKD is a genetic condition that can be detected early with screening. Cyst formation in the kidneys can cause hypertension, flank pain, haematuria, and renal insufficiency. ADPKD often causes end-stage renal failure, requiring dialysis or kidney transplantation. ADPKD is a multisystem disorder in which cysts can harm other organ systems besides the kidneys. The specific symptoms that each person suffers vary according to the organ systems involved. The liver, pancreas, arachnoid membrane, prostate, and sperm-producing glands (seminal vesicles) can all be impacted. ADPKD can cause problems in the heart and blood vessels. ADPKD, formerly known as “adult” polycystic kidney disease, usually develops in the fourth or fifth decade. However, it has been reported in children and newborns.

ADPKD can be caused by mutations in one of seven genes. PKD1 gene and PKD2 gene are the most common genes involved in patients with ADPKD. Approximately 85 % have harmful changes (pathogenic variants) in the PKD1 gene (ADPKD1) leading to the most aggressive form of the disease; those with harmful changes (pathogenic variants) in the PKD2 gene (ADPKD2) progress to kidney insufficiency about 20 years later.

We are here for you.

Dr. Chayim Schell-Apacik is a specialist in clinical genetics with over three decades of experience in supporting patients. We offer individualised evaluations, genetic consultation, and testing with the goal of providing you with genetic information that presents choices and minimises uncertainty, empowering you to make decisions that are most beneficial for you. Please contact us to find out more.

What is genetic testing?

Genetic testing, sometimes called genomic testing, finds changes in the genetic material that can cause health problems. It is mainly used to diagnose rare and inherited health conditions and some cancers.
You may be offered a genetic test because your doctor thinks

• you or your child might have a health condition caused by a change in the genetic material involving one or more genes or certain chromosomes.
• someone in your family has a health condition that is caused by changes in the genetic material involving one or more genes, or certain chromosomes.
• some of your close relatives have had a particular type of cancer that could be inherited.

At Schell Genetics, we are here to assist you in this process. Please don’t hesitate to contact us.

Learn more about other RARE DISEASES or GENETIC DISORDERS