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<p>Pathogenic variants in the type&#xa0;IV collagen genes <i>COL4A3</i>, <i>COL4A4</i> and <i>COL4A5</i> result in a&#xa0;broad clinical phenotype ranging from isolated persistent microscopic hematuria to classical Alport syndrome characterized by progressive decline in kidney function, sensorineural hearing loss and ocular manifestations. With the increasing availability of comprehensive genetic sequencing technologies, our understanding of Alport syndrome has substantially evolved. It has become evident that due to&#xa0;the considerable genotypic and phenotypic heterogeneity the concept of an „Alport spectrum“ appears to be a more suitable term. Particularly important is the knowledge that heterozygous pathogenic variants in <i>COL4A3</i> and <i>COL4A4</i>, which occur in approximately 1 in 100 individuals in the general population, are in no way benign but are associated with an increased risk of chronic kidney disease and kidney failure. Early genetic diagnostics enable an accurate risk stratification, family counseling, surveillance and treatment planning. From a&#xa0;therapeutic perspective, consistent nephroprotection with blockade of the renin-angiotensin-aldosterone system (RAAS) remains the cornerstone of management, increasingly complemented by sodium-glucose transporter&#xa0;2 (SGLT2) inhibitors. In addition, several novel therapeutic approaches, including transient receptor potential cation channel 6 (TRPC6) inhibitors, are currently being evaluated in clinical trials. As a&#xa0;result, a&#xa0;targeted treatment for Alport syndrome/Alport spectrum disease is moving closer to being introduced into clinical practice.</p>

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Lang bekannt, in neuem Licht: Alport-Syndrom und Alport-Spektrum-Erkrankung

  • 期刊论文

  • 发表日期：

    2026年7月24日

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  • Florian J. Wopperer,
  • Julia Hoefele,
  • Korbinian M. Riedhammer

摘要

Pathogenic variants in the type IV collagen genes COL4A3, COL4A4 and COL4A5 result in a broad clinical phenotype ranging from isolated persistent microscopic hematuria to classical Alport syndrome characterized by progressive decline in kidney function, sensorineural hearing loss and ocular manifestations. With the increasing availability of comprehensive genetic sequencing technologies, our understanding of Alport syndrome has substantially evolved. It has become evident that due to the considerable genotypic and phenotypic heterogeneity the concept of an „Alport spectrum“ appears to be a more suitable term. Particularly important is the knowledge that heterozygous pathogenic variants in COL4A3 and COL4A4, which occur in approximately 1 in 100 individuals in the general population, are in no way benign but are associated with an increased risk of chronic kidney disease and kidney failure. Early genetic diagnostics enable an accurate risk stratification, family counseling, surveillance and treatment planning. From a therapeutic perspective, consistent nephroprotection with blockade of the renin-angiotensin-aldosterone system (RAAS) remains the cornerstone of management, increasingly complemented by sodium-glucose transporter 2 (SGLT2) inhibitors. In addition, several novel therapeutic approaches, including transient receptor potential cation channel 6 (TRPC6) inhibitors, are currently being evaluated in clinical trials. As a result, a targeted treatment for Alport syndrome/Alport spectrum disease is moving closer to being introduced into clinical practice.