Expert Reviewed By: Dr. Brandon Colby MD
Macroscopic hematuria, a condition characterized by visible blood in the urine, can be a distressing symptom for patients and a diagnostic challenge for healthcare professionals. While many causes of macroscopic hematuria are well-known, such as urinary tract infections and kidney stones, recent research has shed light on the role of genetic factors in this condition. In this article, we will explore the current understanding of macroscopic hematuria, its diagnosis, and how genetic testing can be a valuable tool in identifying and managing this disorder.
Common Causes of Macroscopic Hematuria in Children and Young Adults
A recent study investigating the major causes of macroscopic hematuria in patients under 20 years old found acute poststreptococcal glomerulonephritis and urinary tract infection as common culprits [3]. However, other less common causes, such as Alport syndrome and Wilms tumor, have also been identified [1, 2].
Genetic Factors in Macroscopic Hematuria
Recent research has shown that gene variants coding for collagen type IV α-chains are common causes of persistent, isolated hematuria in children [4]. Additionally, a study evaluating cardiological, clinical, biochemical, genetic, and inherited thrombophilia risks in Alport syndrome patients identified a novel COL4A3 variant [1]. These findings highlight the importance of considering genetic factors in the diagnosis and management of macroscopic hematuria.
Genetic Testing for Macroscopic Hematuria
Given the increasing evidence for a genetic component in some cases of macroscopic hematuria, genetic testing can be a valuable tool in the diagnostic process and management of this disorder. Below, we explore the various uses of genetic testing as it pertains to macroscopic hematuria.
Identifying Underlying Genetic Causes
Genetic testing can help identify the specific gene variants responsible for macroscopic hematuria in certain cases, such as those involving collagen type IV α-chains [4]. By pinpointing the underlying genetic cause, healthcare professionals can better understand the patient's condition and develop a targeted treatment plan.
Early Detection and Diagnosis
In cases where a genetic cause of macroscopic hematuria is suspected, genetic testing can provide an early and accurate diagnosis. This can be particularly helpful in cases where the cause of hematuria is not immediately apparent through conventional diagnostic methods, such as imaging or laboratory tests.
Family Screening and Risk Assessment
When a genetic cause of macroscopic hematuria is identified, genetic testing can be used to screen family members who may also be at risk for the condition. This can help identify affected individuals early, allowing for appropriate monitoring and intervention as needed.
Personalized Treatment and Management
Understanding the genetic basis of a patient's macroscopic hematuria can inform the development of a personalized treatment plan. This may include targeted therapies or interventions based on the specific genetic cause, as well as careful monitoring for complications or related conditions.
In conclusion, genetic testing can play a crucial role in understanding, diagnosing, and managing macroscopic hematuria. As research continues to uncover the complex genetic factors involved in this condition, genetic testing will likely become an increasingly important tool for healthcare professionals and patients alike.
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)