Rüdiger H W, Gaertner U, Klapdor R, Neumann O G
Med Klin. 1975 Feb 21;70(8):337-40.
This is a report of a 22-year-old man affected with hereditary nephropathy and deafness (Alport syndrome) without positive family history. The diagnosis is based on the typical clinical history, presence of symmetrical neural deafness, and terminal stage of renal insufficiency, that could not be classified otherwise following renal biopsy. The differential diagnosis and genetics are discussed.
这是一份关于一名22岁男性的报告,该男性患有遗传性肾病和耳聋(阿尔波特综合征),但其家族史并无阳性表现。诊断基于典型的临床病史、对称性神经性耳聋的存在以及肾功能不全的终末期,肾活检后无法进行其他分类。文中还讨论了鉴别诊断和遗传学问题。