Introduction: Distal renal tubular acidosis (dRTA) is a disease that may develop either primarily or secondarily, resulting from urinary acidification defects in distal tubules. Hearing loss may accompany primary forms of dRTA. This study aims to determine the characteristics of hearing loss due to different gene mutations in patients with dRTA. Methods: Behavioral and electrophysiological audiological evaluations were performed after otolaryngology examination in 21 patients with clinically diagnosed dRTA. Radiological imaging of the inner ear (n = 9) was conducted and results of genetic analyses using next-generation sequencing method (n = 16) were included. Results: Twenty-one patients with dRTA from 20 unrelated families, aged between 8 months and 33 years (median = 12, interquartile range = 20), participated. All patients with ATP6V1B1 mutations (n = 9) had different degrees of hearing loss. There was one patient with hearing loss in patients with ATP6V0A4 mutations (n = 6). One patient with the WDR72 mutation had normal hearing. Large vestibular aqueduct syndrome (LVAS) was detected in 6 (67%) of 9 patients whose radiological evaluation results were available. Conclusions: LVAS is common in patients with dRTA and may influence the type and severity of hearing loss in these patients. The possibility of both congenital and late-onset and progressive hearing loss should be considered in dRTA patients. A regular audiological follow-up is essential for the early detection of a possible late-onset or progressive hearing loss in these patients.
Audiol Neurotol

中文翻译：

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与远端肾小管性酸中毒基因突变相关的听力损失

简介：远端肾小管酸中毒（dRTA）是一种可能由远端肾小管尿液酸化缺陷引起的原发性或继发性疾病。听力损失可能伴随着初级形式的 dRTA。本研究旨在确定 dRTA 患者因不同基因突变导致的听力损失特征。方法：对 21 例临床诊断的 dRTA 患者进行耳鼻喉科检查后进行行为和电生理听力学评估。对内耳（ n = 9）进行放射学成像，并包括使用下一代测序方法（ n = 16）进行遗传分析的结果。结果：来自 20 个无关家庭的 21 名 dRTA 患者参与，年龄在 8 个月至 33 岁之间（中位数 = 12，四分位距 = 20）。所有携带ATP6V1B1突变的患者（ n = 9）均出现不同程度的听力损失。ATP6V0A4突变患者中有 1 例出现听力损失（ n = 6）。一名携带WDR72突变的患者听力正常。在 9 名可获得放射学评估结果的患者中，有 6 名 (67%) 检测出大前庭导水管综合征 (LVAS)。结论： LVAS 在 dRTA 患者中很常见，可能影响这些患者听力损失的类型和严重程度。dRTA 患者应考虑先天性、迟发性和进行性听力损失的可能性。定期进行听力学随访对于及早发现这些患者可能存在的迟发性或进行性听力损失至关重要。
音频神经托尔