Zhelev N, Astrug A, Konstantinova B, Henov D
Vutr Boles. 1974;13(6):137-44.
A familial predisposed diffuse nephropathy is described in three adult patients--brothers, combined with hearing abatement--receiver type--in two of them. Typical gout was also found in them, that is difficult to associate with the azotemia. It was admitted that it concerns the Alport syndrome in adults, developing with certain peculiarities, advanced patient age, disturbances of purine metabolism, moderately selective proteinuria of glomercultubular type and chromosome aberration--thresomia of F chromosome.
在三名成年患者(兄弟)中描述了一种家族性易患的弥漫性肾病,其中两人伴有听力减退(受体型)。他们还患有典型痛风,这很难与氮质血症联系起来。据认为这涉及成人型奥尔波特综合征,其具有某些特点,如患者年龄较大、嘌呤代谢紊乱、肾小球肾小管型中度选择性蛋白尿以及染色体畸变——F染色体三体性。