Syrenicz A, Czekalski S, Majkowska L
Kliniki Endokrynologii i Chorób Przemíany Materii PAM w Szczecinie.
Pol Tyg Lek. 1991;46(43-44):844-6.
Alport's syndrome consists of hereditary nephritis, often progressing to renal failure, and variable neural hearing loss. It was diagnosed in dizygotic twins, aged 32 years, suffering from nephropathy manifested by microscopic hematuria, proteinuria and chronic renal failure, accompanied by hearing loss and ocular disorders (observed in both retina and lenses). Gothic palate has been noted in both patients. Glomerulitis was diagnosed for the first time at the age of 11 and 12 years, respectively. Hearing loss began in one brother 10 years later, and in another 11 years later. Renal failure developed much later. Diagnostic problems were due to the fact, that streptomycin was used in childhood (another cause of hearing loss?) and to the lack of any symptoms of Alport's syndrome in other members of the family.
阿尔波特综合征包括遗传性肾炎,常进展为肾衰竭,以及不同程度的神经性听力丧失。该疾病在一对32岁的异卵双胞胎中被诊断出来,他们患有以镜下血尿、蛋白尿和慢性肾衰竭为表现的肾病,同时伴有听力丧失和眼部疾病(在视网膜和晶状体中均有观察到)。两名患者均有高腭弓。肾小球肾炎分别在11岁和12岁时首次被诊断。听力丧失在一个兄弟10年后出现,在另一个兄弟11年后出现。肾衰竭则在更晚的时候发生。诊断存在问题,原因是童年时期使用过链霉素(听力丧失的另一个原因?)以及家族其他成员没有任何阿尔波特综合征的症状。