Abstract：
Alport syndrome and autosomal dominant polycystic kidney disease are monogenic causes of chronic kidney disease and end-stage kidney failure. We present a case of a man in his 60s with progressive chronic kidney disease, bilateral sensorineural hearing loss and multiple renal cysts. Genetic analysis revealed a heterozygous variant in COL4A3 (linked to Alport syndrome) and in the GANAB gene (associated with a milder form of autosomal dominant polycystic kidney disease). Although each variant confers a mild risk of developing end-stage kidney disease, the patient presented a pronounced and accelerated progression of chronic kidney disease, which goes beyond what would be predicted by adding up their individual effects. This suggests a potential synergic effect of both variants, which warrants further investigation.
摘要：
Alport综合征和常染色体显性多囊肾病是慢性肾病和终末期肾衰竭的单基因原因。我们介绍了一个60多岁的男性患有进行性慢性肾病的病例，双侧感觉神经性听力损失和多发性肾囊肿。遗传分析显示，COL4A3（与Alport综合征相关）和GANAB基因（与常染色体显性多囊肾病的轻度形式相关）中存在杂合变异。尽管每个变种都具有发展为终末期肾病的轻微风险，患者表现出明显且加速的慢性肾病进展，这超出了通过将它们的个体效应相加来预测的范围。这表明两种变体的潜在协同作用，这需要进一步调查。
