Biomarkers for the early diagnosis of Alport syndrome and associated kidney damage

Alport syndrome (AS) is a hereditary nephropathy characterized by progressive kidney damage that commonly leads to end-stage kidney disease. Early diagnosis is critical, as preemptive nephroprotective therapy, such as angiotensin-converting enzyme inhibitors, can significantly delay disease progression. However, the early diagnosis of AS remains challenging due to the lack of reliable preclinical or screening biomarkers, particularly before the onset of proteinuria. Although nonspecific microhematuria is often present, it is insufficient for definitive early detection. Recent studies have identified potential early cellular alterations as candidate biomarkers for the preclinical detection of AS, but none have been widely implemented in clinical practice. This review presents the current knowledge on early biomarkers of kidney damage for AS, highlights promising avenues for future research, and emphasizes the importance of developing effective diagnostic tools to enable timely intervention and improve patient outcomes.