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Alport 氏综合征是遗传性听力减退伴有肾脏异常,其特征为:1. 对男性正染色体显性遗传的影响较对女性严重;2. 进行性肾炎和尿毒症;3. 进行性感音神经性聋;4. 眼的晶体异常。关于该病的遗传方式和肾脏病理在过去50年内已有很多文献报导,但缺乏听觉方面的详细研究,本文主要介绍该综合症的听力特征。Alport 氏综合征的临床症状:1. 初期有不同程度的血尿和蛋白尿,早期肾功能正常,男性多在20-30岁间,发生典型的肾功能不全,常在40岁前死于尿毒症。女性可以没有症状,但在妊
Alport’s syndrome is a hereditary hearing loss associated with abnormalities of the kidney characterized by: 1. a greater influence on male dominant orthodox than a female; 2. progressive nephritis and uremia; 3. a sensory neurosensitivity Deafness; 4. Eye of the crystal abnormalities. The genetic pattern of the disease and renal pathology in the past 50 years has been a lot of literature, but the lack of detailed auditory aspects, this article focuses on the hearing characteristics of the syndrome. Clinical manifestations of Alport’s syndrome: 1. The initial stage of varying degrees of hematuria and proteinuria, early renal function was normal, more men aged 20-30 years, the typical occurrence of renal insufficiency, often died of uremia 40 years of age . Women can have no symptoms, but in pregnancy