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遗传性肾炎,亦称Alport Syndrome,国内报道尚少,近来本院发现1例,报道如下:患者,男性,17岁,学生,因反复“血尿”17年,尿少、神志不清1周于1991年5月12日急诊入院。患者出生后3天出现肉眼血尿,3岁开始出现颜面浮肿,近7~8年听力、视力减退。人院前1周因感冒而颜面浮肿加剧,伴尿少,恶心、呕吐、气促、神志不清,BUN30.51mmol/L,Cr787.4μmol/L。患者母亲及两个舅舅分别于33岁、34岁及36岁死于尿毒症,但均无耳聋。入院时查体:T38.6℃,P120次,
Hereditary nephritis, also known as Alport Syndrome, is still less reported in China. Recently, one case was found in our hospital. The report was as follows: Patient, male, 17 years old, student, due to repeated hematuria for 17 years, oliguria, May 12, 1991 emergency admission. 3 days after birth, patients with gross hematuria, 3-year-old began to appear facial edema, nearly 7 to 8 years of hearing, vision loss. 1 week before hospital because of flu and facial edema aggravated, with less urine, nausea, vomiting, shortness of breath, confusion, BUN30.51mmol / L, Cr787.4μmol / L. Patients’ mothers and two uncles died of uremia at the age of 33, 34 and 36, respectively, but none of them deaf. Admission examination: T38.6 ℃, P120 times,