Kidney disease affects millions of people worldwide. While it is far from the only factor, your DNA can impact the risk of your kidneys malfunctioning. Understanding the power of genetics and genetic testing can revolutionize how doctors diagnose, manage, and even prevent many serious diseases. In this blog, we’ll explore the role of genetics in kidney disease and related conditions and discuss the incredible value of genetic testing in improving patient outcomes.

Genetic Causes of Kidney Disease and Dysfunction

The National Kidney Foundation reports that there are over 60 known types of genetic or inherited kidney disease. Genetic kidney diseases are found in approximately 10% of adults with end-stage kidney disease. However, in patients under 25 years old with deterioration of kidney function, genetic kidney disease is present in up to 70% of cases. We discuss some of these genetic conditions below.

Polycystic kidney disease (PKD)

PKD is a genetic disorder characterized by the development of numerous cysts (fluid-filled sacs) in the kidneys that, over time, cause kidney dysfunction. There are two main types of PKD: autosomal dominant polycystic kidney disease (ADPKD), which usually manifests in adulthood, and autosomal recessive polycystic kidney disease (ARPKD), which typically appears in infancy or childhood. 

Genetic analysis can differentiate between different types of PKD and other kidney disorders that may have similar symptoms. This distinction is crucial for disease management and family planning. DNA tests can also provide clues on how the disease will progress. Certain mutations may correlate with a more aggressive form of the disease, influencing treatment decisions and prognosis.

Alport syndrome

Alport syndrome is a rare genetic disorder that primarily affects the kidneys, ears, and eyes, causing progressive kidney disease, hearing impairment, and vision problems. Individuals with this condition have defects in collagen, a crucial protein that provides structure to various tissues in the body.

Genetic testing is critical in confirming the diagnosis of Alport syndrome and developing a management plan to preserve kidney function. Analyzing a patient’s genes can also aid in determining their risk of developing complications associated with the syndrome.

Fabry disease

Fabry disease is a rare genetic disorder that belongs to a group of diseases known as lysosomal storage disorders. It’s caused by an enzyme deficiency that leads to the buildup of a fatty substance called globotriaosylceramide (Gb3) in the body’s cells and organs. This accumulation can affect multiple systems, including the skin, eyes, kidneys, heart, and nervous system.

Genetic testing is the gold standard for confirming a diagnosis of Fabry disease. Genetic analysis is also valuable because different mutations can cause variations in the severity and onset of symptoms.

Nephronophthisis (NPHP)

Nephronophthisis (NPHP) is a rare genetic disorder that primarily affects the kidneys, causing progressive degeneration that can eventually lead to kidney failure. NPHP typically manifests in childhood or adolescence, causing excessive urination, thirst, weakness, and exhaustion. It may occur alongside or cause additional health problems like retinal degeneration, cardiac issues, or neurological symptoms. 

DNA analysis is instrumental in diagnosing NPHP. Identifying gene mutations linked to the condition can aid in understanding the disease’s progression and guiding treatment approaches.

Benefits of Genetic Testing for Kidney Disease or Dysfunction

Genetic Diagnosis

Diagnosing many of these conditions without genetic testing is challenging, leaving many cases of genetic kidney disease undiagnosed. Advancements in genome sequencing techniques, like whole exome sequencing, have significantly improved the speed and affordability of a genetic diagnosis. In recent studies, whole exome sequencing has identified genetic causes in anywhere from 9.3% to 40% of patients with unknown causes or a family history of chronic kidney disease. Knowing the exact cause of a kidney disease will allow physicians to provide better patient care and management.

Risk Identification and Early Detection

Geneticists can identify genetic markers associated with a specific kidney disease even before symptoms arise. Because diseases can result from complex interactions between multiple genes and environmental factors, it is crucial to delve deep into an individual’s genetic makeup to identify their unique risk factors. For those at high risk, genetic testing can allow healthcare providers to prioritize monitoring and care. If doctors catch a condition early, proactive intervention and lifestyle modifications may help to delay or prevent its progression. 

Precision Medicine

Personalized treatment plans based on genetic data can significantly improve patient outcomes. 

Knowing the genetic cause of a disease and a patient’s genetic profile can help doctors select the most appropriate medications and therapies, reducing adverse reactions and increasing treatment efficacy. DNA analysis can also reveal insights into disease severity and prognosis.

Clinical Trials

Geneticists can help match patients with clinical trials testing targeted therapies for specific genetic forms of kidney disease. Clinical trials not only benefit current patients but also advance medical research and the development of new treatments.

Family Planning

Genetic counseling and testing can help individuals understand their risk of passing kidney disease to their offspring. This knowledge can be invaluable for family planning decisions, allowing you to make informed choices about your reproductive options.

Family Testing

If a patient has a genetic condition, it may be beneficial for other family members to seek genetic testing and analysis. This testing can allow for early detection and management or prevention.

Healthcare That’s Uniquely for You

DNA testing is a powerful tool for understanding and managing your health. It’s the ultimate personalized medicine, and with continued advances in technology and increased awareness, it’s becoming more accessible and integrated into routine healthcare. By harnessing the potential of genetic testing, doctors are transforming how we diagnose, treat, and prevent kidney disease and improving the lives of those affected by this condition. 

If you or a loved one are interested in genetic testing and analysis, SequenceMD may be able to help. Our medical genetics practice is licensed to see patients in 7 states: Colorado, Wyoming, Arizona, Montana, New Mexico, Kansas and Michigan. We focus on adults with undiagnosed conditions and unresolved symptoms as well as on patients with established genetic and metabolic diagnoses. Contact us today to learn more and connect with our genetics care team.