5 Things Every PKD-Impacted Family Should Know

PKD Can Run Through Families

PKD is genetic. The most common form, autosomal dominant PKD (ADPKD), accounts for roughly 90% of cases and is usually caused by a disease-causing genetic variant inherited from one affected parent. Each child of a parent with ADPKD generally has a 50% chance of inheriting the disease-causing variant. While ADPKD is usually inherited from an affected parent, it can also arise from a new (de novo) genetic variant.

Autosomal recessive PKD (ARPKD) follows a different inheritance pattern. ARPKD occurs when a child inherits a disease-causing genetic variant from both parents. The parents are typically healthy carriers who do not have ARPKD themselves.

There Are Multiple Ways to Diagnose PKD

PKD may be diagnosed using family history, imaging (such as ultrasound, CT or MRI), and genetic testing. Genetic testing can provide critical information that may be useful to other relatives and for future family-planning decisions. One commonly ordered genetic test for those with a suspected PKD diagnosis is called Renasight .

You Have Family-Planning Options

Having PKD does not mean you have only one path to parenthood.

A genetic counselor can help explain your individual genetic risk and discuss reproductive options with you. This conversation can happen before you're ready to start a family, giving you more time to understand your choices.

IVF With PGT-M Can Help Some Families Reduce the Chance of Passing PKD On

Some families affected by PKD choose in vitro fertilization (IVF) with preimplantation genetic testing (PGT-M).

PGT-M can be used in appropriate circumstances to test embryos for a specific monogenic (single-gene) condition (including PKD) before embryo transfer. Whether PGT-M is technically feasible depends upon the family's genetic circumstances, which is one reason genetic counseling is an important part of the process.

Choosing PGT-M is a personal decision. Our goal is to make sure families know the option exists and have accurate information to decide what is right for them.

You Don't Have to Figure This Out Alone

PKD-Free Alliance is here to help. We provide education about reproductive options, connections to helpful expertise, and financial assistance for eligible families through the PKD-Free Babies Grant Program .

Previous generations of PKD families didn't always have access to the reproductive information and technologies available today.

If PKD affects other people in your family, please share what you've learned. They may have questions about their own diagnosis, genetic testing, or future family planning that they've never had an opportunity to ask.