Scientists find genetic root cause of chronic kidney disease

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Chronic kidney disease (CKD) is a widespread health issue, touching the lives of over 800 million people across the globe. For many, treatment options like dialysis or kidney transplants become necessary as the disease progresses.

Yet, the root cause of CKD remains a mystery in about 10% of cases, leaving experts to wonder if hidden genetic factors could be at play.

Researchers from Tokyo Medical and Dental University (TMDU) in Japan took on this challenge by delving into the genetics of CKD.

They started with a large group of patients undergoing dialysis in Kanagawa Prefecture and narrowed their focus to 90 adults whose CKD origins were unknown. These patients hadn’t been diagnosed with inherited kidney diseases, which are less common in those over 50.

The team examined 298 genes linked to various inherited renal diseases through advanced genetic sequencing techniques. Their findings were striking: 11% of the studied group had genetic mutations directly causing CKD.

For these individuals, their diagnoses at the time of dialysis didn’t reflect their actual conditions. Diseases like Fabry’s disease and Alport syndrome were among the identified conditions, which are notably more manageable with early detection and treatment.

Moreover, the study found another 18.9% of participants carried genetic variants of uncertain significance but with potential links to kidney diseases. This gray area in genetic findings underscores the complexity of diagnosing and understanding CKD.

This work represents one of the largest genetic investigations of its kind, offering new insights into how CKD is diagnosed and managed, especially for those cases where the cause isn’t clear.

The researchers advocate for genetic testing in adult CKD patients without a known cause, hoping that early and accurate diagnosis could reduce the need for dialysis.

The significance of this study extends beyond its immediate findings. It underscores the potential of genetic analysis in revolutionizing the treatment and management of CKD, paving the way for more targeted therapies and a better quality of life for patients with inherited kidney diseases.

With continued research and the development of specialized genetic analysis tools, like the one recently patented by the TMDU team for Japanese individuals, the future for CKD patients looks more hopeful.

If you care about kidney health, please read studies about how to protect your kidneys from diabetes, and drinking coffee could help reduce risk of kidney injury.

For more information about kidney health, please see recent studies about foods that may prevent recurrence of kidney stones, and eating nuts linked to lower risk of chronic kidney disease and death.

The research findings can be found in Kidney International Reports.

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