From left: Kim Ji-hyun, a professor in the Department of Pediatrics at Seoul National University Bundang Hospital, and Ahn Yo-han and Kang Hee-kyung, professors in the Department of Pediatrics at Seoul National University Hospital. [Seoul National University Bundang Hospital]
From left: Kim Ji-hyun, a professor in the Department of Pediatrics at Seoul National University Bundang Hospital, and Ahn Yo-han and Kang Hee-kyung, professors in the Department of Pediatrics at Seoul National University Hospital. [Seoul National University Bundang Hospital]

South Korea has issued its first standardized clinical guidelines for the diagnosis and treatment of Alport syndrome, a hereditary kidney disease that gradually damages the kidneys from childhood.

A research team led by Kim Ji-hyun, a professor in the Department of Pediatrics at Seoul National University Bundang Hospital, developed the guidelines to unify the varying diagnostic and treatment approaches used across hospitals. The corresponding author is Ahn Yo-han, a professor in the Department of Pediatrics at Seoul National University Hospital.

A key feature of the guidelines is that they clearly distinguish, based on Korea's clinical environment, which treatments have solid evidence behind them and which still lack sufficient support. The work was part of a project by the Genetic Kidney Disease Research Group of the Korean Society of Nephrology, chaired by Kang Hee-kyung, a professor in the Department of Pediatrics at Seoul National University Hospital, and the findings were published in the international journal Kidney Research and Clinical Practice.

Alport syndrome is a hereditary kidney disease caused by mutations in the genes responsible for producing collagen, a structural protein.

The condition typically begins with microscopic blood in the urine and progresses to proteinuria and declining kidney function, ultimately leading to end-stage renal failure requiring dialysis. Boys with X-linked mutations and those with autosomal recessive forms tend to progress rapidly, sometimes reaching end-stage renal failure in their early to mid-20s. Hearing loss and vision problems may also accompany the disease.

There is no cure, but early diagnosis and treatment can delay the need for dialysis by more than 10 years, and in mild cases patients may never require dialysis at all. Prompt diagnosis and standardized treatment are critical.

The problem was that South Korea had no standard clinical guidelines. While countries in Europe and elsewhere have established recommendations, they were difficult to apply directly in Korea given differences in the clinical environment, and diagnostic and treatment practices varied from hospital to hospital. A 2025 awareness survey by Kim found that Alport syndrome was frequently misdiagnosed or diagnosed late because its symptoms resemble those of other chronic kidney diseases. Patients and their guardians also cited delayed diagnosis, insufficient explanation and the absence of support groups as major shortcomings.

The Genetic Kidney Disease Research Group of the Korean Society of Nephrology reviewed 622 domestic and international studies in collaboration with specialists in pediatrics, nephrology, pathology, otolaryngology and ophthalmology to develop the guidelines. For the treatment section in particular, the reliability of each study was assessed individually using international standard methods before a recommendation rating was assigned. Kim oversaw the entire guideline development process as secretary, from conducting the domestic awareness survey to reviewing the evidence for treatment strategies.

The centerpiece of the guidelines is a clear, evidence-based classification of treatments. Renin-angiotensin system (RAS) inhibitors — blood pressure medications that reduce proteinuria and protect the kidneys — received a "strong recommendation" based on well-established evidence that they slow the decline of kidney function.

A pooled analysis of multiple studies found that this treatment reduces the risk of progression to renal failure by about 67 percent. Starting the therapy early in the disease course and rapidly titrating up to the maximum tolerated dose is recommended for best effect. Treatment should begin at the microalbuminuria stage, when trace amounts of protein are first detected in the urine. High-risk patients — boys with X-linked mutations and those with autosomal recessive forms — are advised to start treatment even earlier, at the stage of microscopic hematuria alone, before proteinuria develops.

By contrast, cyclosporine, mineralocorticoid receptor antagonists and SGLT2 inhibitors showed short-term reductions in proteinuria but lacked sufficient evidence of long-term kidney protection, so their use was not recommended at this time. This does not mean they are ineffective; rather, they may be reassessed as more evidence accumulates. Cyclosporine warrants caution because it can place additional strain on the kidneys; mineralocorticoid receptor antagonists may be considered as a second-line agent; and SGLT2 inhibitors may be considered in combination for adult patients whose condition is not adequately controlled by RAS inhibitors alone.

"Alport syndrome is a disease where prognosis varies greatly depending on when it is diagnosed and when treatment begins," Kim said. "These guidelines do not simply list treatment options — they clearly distinguish between treatments with established evidence and those that still lack it, and standardize care on that basis."


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