Fujii Hayahiko, Mori Yoshihiro, Kayamori Kou, Igari Toru, Ito Eisaku, Akashi Takumi, Noguchi Yoshihiro, Kitamura Ken, Okado Tomokazu, Terada Yoshio, Kanda Eiichiro, Rai Tatemitsu, Uchida Shinichi, Sasaki Sei
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Clin Exp Nephrol. 2008 Apr;12(2):159-163. doi: 10.1007/s10157-007-0022-5. Epub 2008 Jan 9.
A 38-year-old man with mild sensorineural hearing loss, diabetes mellitus, proteinuria, and slight renal dysfunction was admitted to our hospital for a renal biopsy to determine the cause of kidney disease. His elder sister and mother also had sensorineural hearing loss and renal failure, suggesting the existence of a common genetic disease in this family. Although the clinical features of the patient were similar to features of Alport syndrome, renal biopsy revealed no sign of Alport syndrome. We next considered a possibility of a mitochondrial kidney disease described by Jansen in 1997. Indeed, genetic analysis of mitochondrial DNA clarified the existence of A3243G mutation in the patient and his sister. This syndrome should be recognized by nephrologists as a differential diagnosis of Alport syndrome, diabetic nephropathy, and primary glomerular diseases.
一名38岁男性，患有轻度感音神经性听力损失、糖尿病、蛋白尿和轻度肾功能不全，因进行肾活检以确定肾脏疾病病因入住我院。他的姐姐和母亲也患有感音神经性听力损失和肾衰竭，提示该家族存在一种常见的遗传疾病。尽管患者的临床特征与阿尔波特综合征相似，但肾活检未发现阿尔波特综合征的迹象。接下来，我们考虑了1997年詹森描述的线粒体肾病的可能性。事实上，线粒体DNA的基因分析证实患者及其姐姐存在A3243G突变。肾病学家应认识到这种综合征可作为阿尔波特综合征、糖尿病肾病和原发性肾小球疾病的鉴别诊断。
