Renal complications in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA

被引：23

作者：

Hirano, M ^{[1
]}

Konishi, K ^{[1
]}

Arata, N ^{[1
]}

Iyori, M ^{[1
]}

Saruta, T ^{[1
]}

Kuramochi, S ^{[1
]}

Akizuki, M ^{[1
]}

机构：

[1] Yokohama Municipal Citizens Hosp, Dept Med, Hodogaya Ku, Yokohama, Kanagawa 2408555, Japan

来源：

INTERNAL MEDICINE | 2002年 / 41卷 / 02期

关键词：

mitochondrial gene mutation; glomerulosclerosis; nephropathy;

D O I：

10.2169/internalmedicine.41.113

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 27-year-old woman with short statue, sensorineural deafness, and renal dysfunction was hospitalized for evaluation. The serum lactate and pyruvate concentrations were elevated. The analysis of her mitochondrial DNA revealed an A-to-G mutation of the tRNA (Leu (UUR)) gene at the 3243 position. Renal biopsy revealed many sclerotic glomeruli, advanced tubulointerstitial changes, and numerous swollen mitochondria of the tubular cells. It was concluded that the patient's mitochondrial gene mutation was etiologically related to her nephropathy. The clinicopathologic features of this patient, as contrasted to the previous reports, suggested that renal affection due to this mitochondrial gene mutation can be heterogeneous.

引用

页码：113 / 118

页数：6