Cheong H I, Chae J H, Kim J S, Park H W, Ha I S, Hwang Y S, Lee H S, Choi Y
Department of Pediatrics, Seoul National University Children's Hospital, Korea.
Pediatr Nephrol. 1999 Aug;13(6):477-80. doi: 10.1007/s004670050641.
Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial DNA, which is known to be associated with most cases of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics of hereditary progressive glomerular disease and hearing loss with Alport syndrome. We therefore screened 27 patients with kidney disease clinically mimicking Alport syndrome for the presence of the 3243 mitochondrial mutation, and found one girl with the mutation and a positive family history. Her clinical features were very similar to those of all cases reported to date. An absence of hematuria, severe kidney involvement in a female, pathological changes of focal segmental glomerulosclerosis with no basket-weave change of the glomerular capillary wall, and the frequent association of steroid-induced diabetes are the major features that distinguish this condition from Alport syndrome. Careful neurological examination may detect neuromuscular symptoms compatible with mitochondrial cytopathies. In conclusion, progressive glomerulopathy should be included in the broad spectrum of mitochondrial cytopathies, especially in cases of MELAS syndrome. This mutation should also be included in the etiologies of secondary focal segmental glomerulosclerosis and in the differential diagnosis of Alport syndrome.
最近有报道称，几例遗传性肾小球病与线粒体DNA第3243位的A到G转换有关，已知该转换与大多数线粒体脑肌病伴乳酸血症和卒中样发作综合征（MELAS，即肌病、脑病、乳酸酸中毒和卒中样发作）病例相关。这些患者具有遗传性进行性肾小球疾病的特征，且伴有阿尔波特综合征相关的听力损失。因此，我们对27例临床上疑似阿尔波特综合征的肾病患者进行了筛查，以检测是否存在3243线粒体突变，结果发现一名有该突变且有家族史的女孩。她的临床特征与迄今为止报道的所有病例非常相似。无血尿、女性严重肾脏受累、局灶节段性肾小球硬化的病理改变且肾小球毛细血管壁无编织样改变，以及频繁出现类固醇诱导的糖尿病，这些是将这种疾病与阿尔波特综合征区分开来的主要特征。仔细的神经系统检查可能会发现与线粒体细胞病相符的神经肌肉症状。总之，进行性肾小球病应纳入线粒体细胞病的广泛范畴，尤其是在线粒体脑肌病伴乳酸血症和卒中样发作综合征的病例中。该突变也应纳入继发性局灶节段性肾小球硬化的病因以及阿尔波特综合征的鉴别诊断中。
