*Formerly known as the pkDO Foundation
PKD Resources & Allies
If you have PKD, you are not alone. Researchers and medical professionals, together with state-of-the-art protocols, are working to provide healthier outcomes.
Understanding PKD and Family Planning Terminology
Receiving a diagnosis of polycystic kidney disease (PKD), whether recently or years ago, means learning a whole new vocabulary to better understand your condition and make informed decisions about your health and your family’s generational health. We’ve compiled commonly used terms and definitions associated with PKD management, including important phrasing for those interested in utilizing assisted reproductive technology to actualize a PKD-free birth, to ensure patients feel confident when speaking about these aspects of their health journey.
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ACE Inhibitor (Angiotensin-Converting Enzyme Inhibitor) Commonly prescribed drug to help moderate blood pressure in ADPKD patients; ACE inhibitors also help slow the spill of protein into the urine
Assisted Reproductive Technology (ART) Fertility treatments and procedures performed with the goal of achieving conception
Blastocyst A ball of cells formed in early stages of eventual embryo development
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Most common inherited kidney disorder which accounts for approximately 90% of polycystic kidney diseases cases
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Rare genetic disorder accounting for approximately 10% of polycystic kidney disease cases.
Carrier Genetic Testing Screening Genetic Test that assesses whether an individual is a carrier for a certain gene mutation; typically performed during family planning stage
Cysts Cysts are fluid-filled pockets that can grow in organs like the kidneys
Embryo Biopsy A biopsy in this context means removing a few cells from an embryo (without harming it) to test its genes
Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel A genetic test which identifies multiple genes associated with polycystic kidney disease
Gene of Uncertain Significance (GUS) A less commonly used phrase to describe a gene identified through genetic sequencing whose connection to a specific disease is currently not understood as benign or harmful. The term Variant of Uncertain Significance, or VUS, is more commonly used.
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Intracytoplasmic Sperm Injection (ICSI) A specialized form of In Vitro Fertilization where a single sperm is selected by an embryologist and is injected directly into one retrieved egg
In Vitro Fertilization A process in which eggs are fertilized by sperm outside of the body and are subsequently transferred as an embryo into the female
Jynarque Brand name for Tolvaptan, an FDA-approved treatment for adult patients with Autosomal Dominant Polycystic Kidney Disease
Monogenic Of or relating to a single gene
Nephrologist A nephrologist is a medical doctor who specializes in the diagnosis and treatment of kidney diseases
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Pre-implantation genetic testing (PGT) Genetic test performed to identify specified genetic mutations on embryos
Pre-implantation genetic testing for monogenic disorders (PGT-M) A form of assisted reproductive technology (ART) used during In Vitro Fertilization to identify and select embryos free of a known single-gene genetic disorder
Probe Customized genetic test kit utilized in PGT-M testing to identify specific gene mutations such as PKD
Tolvaptan (brand name Jynarque) is a prescription medication used to help preserve native kidney function in adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
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Variant of Uncertain Significance (VUS) Phrase used to describe a gene identified through genetic sequencing whose connection to a specific disease is currently not understood as benign or harmful
Planning for the Future
PKD-Free Alliance collaborated with Sinem Karipcin, MD, Director of the Pre-Pregnancy Genetics Program at Columbia University’s Fertility Center to outline key genetic and reproductive care considerations for those interested in exploring IVF with PGT-M.
Diagnosis Through Genetic Testing
Natera’s Renasight™ is a genetic test that helps individuals and families understand whether their kidney disease may have a genetic cause.
Using a simple blood or saliva sample, Renasight analyzes 397 genes linked to kidney disease, including those associated with polycystic kidney disease (PKD) giving patients clearer answers about their diagnosis and what it may mean for their family.
Slowing the Progression
If you’re a young adult with PKD
You may be able to extend the life of your kidneys by 15 to 20 years.
If you have Polycystic Kidney Disease, you may have been told there is nothing to do but get on a donor list. But you don’t need to wait for kidney failure. There are ways you can prolong the health of your kidneys and slow the progression of the disease, so you can delay or avoid kidney failure.
You may already know about staying hydrated and following a low-sodium diet. There are also medications, nutritional interventions and lifestyle changes you can use to slow the progression of PKD. Talk to a nephrologist and renal dietitian that specialize in PKD about these measures and more ways to preserve your kidneys’ health and function.
Santa Barbara Nutrients
Santa Barbara Nutrients is a team of researchers who are committed to supporting kidney and metabolic health through innovation, research and development.
Their Ren-Nu Program was developed to help people manage PKD. This comprehensive program aims to improve common PKD symptoms, such as pain and high blood pressure, while slowing the progression of kidney disease.
This program combines low-oxalate ketogenic nutrition with the innovative medical food KetoCitra®, to address key mechanisms of PKD progression, including metabolic defects and the formation of renal microcrystals.
Mental Health & Emotional Wellness
Living with polycystic kidney disease can impact far more than physical health. From the moment of diagnosis, many individuals and families experience anxiety, grief, uncertainty, and emotional exhaustion as they navigate a lifelong genetic disease that can affect multiple generations. These emotions are valid, can evolve over time, and they deserve attention and support.
At PKD-Free Alliance, we believe mental and emotional wellness are critical parts of overall health.
Medical Centers of Excellence for PKD
To find a PKD Foundation Center of Excellence near you, visit pkdcure.org/carecenters
PKD-Free Alliance Allies
Our allies work with PKD-Free Alliance to provide assistance to individuals affected by PKD.
PKD-Free Babies Program Allies
Our reproductive technology allies help families end polycystic kidney disease (PKD) through InVitro Fertilization (IVF) and Preimplantation Genetic Testing for Monogenic disorders (PGT-M).
Awareness Allies
Our awareness allies help us spread the word about PKD patient/family stories and overall Alliance efforts.
Donate Now to Support Families Fighting PKD
PKD-Free is honored to work with medical specialists, advocates and families who embrace our mission of enhancing generational health by ensuring a PKD-free future. Please consider donating to help us support families and achieve our goal.