Expert Reviewed By: Dr. Brandon Colby MD
IgA nephropathy (IgAN) is a complex kidney disease that affects millions of people worldwide. Understanding, diagnosing, and using genetic testing for this disorder is crucial to help patients and their families manage and potentially prevent the progression of the disease. Recent studies have shed light on the genetic factors that contribute to susceptibility and progression of IgA nephropathy, offering hope for better diagnosis, treatment, and prevention strategies.
Understanding IgA Nephropathy
IgA nephropathy, also known as Berger's disease, is a kidney disorder characterized by the buildup of immunoglobulin A (IgA) in the kidneys. This can cause inflammation and damage to the glomeruli, the tiny structures within the kidneys responsible for filtering waste and excess fluid from the blood. Over time, this damage can lead to kidney failure and the need for dialysis or a kidney transplant.
Diagnosing IgA Nephropathy
Diagnosing IgA nephropathy typically involves a combination of blood tests, urine tests, and a kidney biopsy. Blood tests can reveal elevated levels of IgA, while urine tests can detect blood and protein in the urine, indicating kidney damage. A kidney biopsy, in which a small sample of kidney tissue is removed and examined under a microscope, can confirm the presence of IgA deposits and the extent of kidney damage.
Genetic Testing for IgA Nephropathy Susceptibility
Recent studies have identified genetic factors that may contribute to the susceptibility and progression of IgA nephropathy. Understanding these genetic factors can help researchers develop targeted therapies and prevention strategies for patients with this disorder.
IL-23R and IL-17A Polymorphisms
A study published in Gene Therapy investigated the link between genetic polymorphisms in IL-23R and IL-17A and the susceptibility to IgA nephropathy in a Chinese Han population. The researchers found that certain genetic variations in these genes were associated with an increased risk of developing the disease. Genetic testing for these polymorphisms could help identify individuals at risk for IgA nephropathy and guide early intervention and treatment strategies.
CFHR3-1 Gene and Familial C3 Glomerulopathy
Research published in the Journal of the American Society of Nephrology identified an autosomal dominant complement-mediated GN associated with abnormal increases in copy number across the CFHR3 and CFHR1 loci. This genetic alteration was found to be associated with a higher risk of developing IgA nephropathy. Genetic testing for this hybrid CFHR3-1 gene could help identify affected family members and guide treatment and prevention strategies.
Dietary Zinc and IgA Nephropathy Progression
A study published in PLOS ONE explored the relationship between dietary zinc and IgA nephropathy development in IgAN-prone mice. The researchers found that immune conditioning with dietary zinc altered nephritogenic IgA production after mucosal infection, suggesting that dietary zinc may play a role in the progression of the disease. Further research is needed to determine the potential benefits of dietary zinc supplementation in humans with IgA nephropathy.
Genome-Wide Association Studies (GWAS)
A review article published on ResearchGate highlights the findings of genome-wide association studies (GWAS) on IgA nephropathy. These studies have identified common disease-causing alleles and their impact on disease phenotype. Genetic testing for these alleles could help identify individuals at risk for IgA nephropathy and provide insights into the underlying mechanisms of the disease, ultimately leading to better diagnosis, treatment, and prevention strategies.
Conclusion
Genetic testing for IgA nephropathy susceptibility and progression is an emerging field that holds promise for improving patient outcomes. By understanding the genetic factors that contribute to this complex disease, researchers can develop targeted therapies and prevention strategies to help those affected by IgA nephropathy. As our understanding of the genetic underpinnings of this disorder continues to grow, so too will our ability to diagnose, treat, and prevent IgA nephropathy.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)