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<p>Progressive sensorineural hearing loss is frequently encountered among patients with chronic kidney disease. The most common etiologies for the coexistence of hearing loss in dialysis patents are adverse effects of medications, syndromes involving oto-renal functions (wellknown one is Alport syndrome), the presence of nonsyndromic genetic hearing loss with chronic kidney disease unrelated to inner ear disease, and the hemodynamic and atherosclerotic effects of uremia. A 37-year-old anuric male peritoneal dialysis (PD) patient who had previously been diagnosed with chronic kidney disease and progressive sensorineural hearing loss secondary to presumed Alport Syndrome at another center was admitted to our department with uncontrolled hypertension, hypervolemia, anemia, and secondary hyperparathyroidism. After correcting hypervolemia and hyperparathyroidism, genetic analysis was performed. To the best of our knowledge, this is the first reported case of a patient with double mutations in the <i>PKD2</i> and <i>GJB2</i> genes resulting in CKD and SNHL. We aimed to emphasize the importance of genetic analysis rather than relying on a presumed diagnosis.</p>

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An exceptional cause for the coexistence of chronic kidney disease with progressive sensorineural hearing loss: double mutations in the PKD2 and GJB2 genes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月30日

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  • Kubra Kaynar,
  • Hakan Ertan,
  • Ela Dibe,
  • Özge Çıkrıkçı

摘要

Progressive sensorineural hearing loss is frequently encountered among patients with chronic kidney disease. The most common etiologies for the coexistence of hearing loss in dialysis patents are adverse effects of medications, syndromes involving oto-renal functions (wellknown one is Alport syndrome), the presence of nonsyndromic genetic hearing loss with chronic kidney disease unrelated to inner ear disease, and the hemodynamic and atherosclerotic effects of uremia. A 37-year-old anuric male peritoneal dialysis (PD) patient who had previously been diagnosed with chronic kidney disease and progressive sensorineural hearing loss secondary to presumed Alport Syndrome at another center was admitted to our department with uncontrolled hypertension, hypervolemia, anemia, and secondary hyperparathyroidism. After correcting hypervolemia and hyperparathyroidism, genetic analysis was performed. To the best of our knowledge, this is the first reported case of a patient with double mutations in the PKD2 and GJB2 genes resulting in CKD and SNHL. We aimed to emphasize the importance of genetic analysis rather than relying on a presumed diagnosis.