Understanding Polycystic Kidney Disease: Genetics & Reproductive Carrier Screening.

Abbreviation: PKD
Gene: PKHD1
Inheritance pattern: Autosomal recessive (AR)

Polycystic Kidney Disease (PKD) is a genetic disorder that primarily affects the kidneys, potentially leading to damage in other organs as well. Understanding this condition, its implications, and available options for reproductive planning is crucial.

What is Polycystic Kidney Disease (PKHD1 related)?

Polycystic Kidney Disease (PKHD1 related) is characterised by the development of fluid-filled sacs, or cysts, on the kidneys. These cysts hinder the kidneys' ability to effectively filter waste from the blood, resulting in enlarged kidneys and a potential risk of kidney failure.

Being a Carrier of Polycystic Kidney Disease

Carriers of Polycystic Kidney Disease (PKHD1 related) possess a genetic variation in one of their "PKHD1" genes. Carriers themselves don't experience any symptoms of the condition and are not affected by it. However, if both partners in a couple are carriers, there's a 25% (1 in 4) chance that their offspring will be affected by the disease.

Genetics is a Family Affair

Genetics plays a role in family health. If you are identified as a carrier:

• There's a 50% chance of passing the genetic variation to your offspring, making them carriers without showing symptoms.
• Close family members might also be carriers. Sharing this information can help them understand their risk and options.

Carrier Frequency of Polycystic Kidney Disease

Reproductive Planning and Support

Carrier screening is essential before pregnancy, offering options like in-vitro fertilisation with pre-implantation genetic diagnosis. During pregnancy, tests can diagnose the genetic status, and ultrasound can detect abnormalities. After pregnancy, clinical examination and genetic testing confirm the diagnosis.

Managing Polycystic Kidney Disease

While there's no cure, management options are available:

• Early intervention for breathing difficulties in infants.
• Nutritious diet for growth-restricted children.
• Dialysis or kidney transplant for kidney failure.
• Medication to address symptoms like high blood pressure.

Prognosis and Options

Affected children often face kidney failure by age 10, with some infants experiencing life-threatening breathing difficulties. Prognosis improves with proper management. If both partners are carriers, options such as leaving it to chance, prenatal diagnosis, IVF with PGD, or other choices can help avoid passing on the disease.

Seek Professional Guidance

Carrier screening is an essential option for those who want to understand the chance of having a child with Polycystic Kidney Disease. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are carriers of PKD, as well as more than 560 other genetic conditions. This information supports people to make informed decisions about their family planning and pregnancy care options. Eugene’s Genetic Counsellors support you before, during and after results and are available to help you make the best decision, based on your values and needs.

Explore the latest reproductive carrier screening options fully supported by our genetic counsellors.

More information and resources:
Polycystic Kidney Disease Australia - https://pkdaustralia.org/
Genetics Home Reference - https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease