Xue Yufang, Wang Bin, Tang Rining, Ni Haifeng, Chen Pingsheng, Liu Bi-Cheng, Zhang Xiaoliang
Clin Nephrol. 2019 Dec;92(6):325-328. doi: 10.5414/CN109784.
Bartter syndrome (BS), a rare autosomal recessive disorder affecting renal tubular potassium handling, is characterized by hypokalemia, metabolic alkalosis, and renal salt wasting. In this report, we describe an adult patient with longstanding clinical symptoms of fatigue, polyuria, polydipsia, mental retardation, and physical dysplasia along with hypokalemia and metabolic alkalosis as laboratory findings. With these clinical symptoms, a patient can be diagnosed with BS type III. Renal biopsy and genetic testing were performed for further confirmation of the diagnosis, revealing renin granular deposits in the juxtaglomerular apparatus (JA) with JA hyperplasia. DNA sequencing detected a heterozygous synonymous mutation, c.1140G>A, in exon 12 of the gene, which could be traced back to a heterozygous synonymous mutation in the patient's mother, who does not have BS.
巴特综合征（BS）是一种罕见的常染色体隐性疾病，影响肾小管对钾的处理，其特征为低钾血症、代谢性碱中毒和肾性失盐。在本报告中，我们描述了一名成年患者，其长期存在疲劳、多尿、烦渴、智力发育迟缓及身体发育异常等临床症状，实验室检查发现低钾血症和代谢性碱中毒。根据这些临床症状，该患者可被诊断为III型巴特综合征。为进一步确诊进行了肾活检和基因检测，结果显示肾小球旁器（JA）有肾素颗粒沉积且JA增生。DNA测序在该基因第12外显子中检测到一个杂合同义突变，即c.1140G>A，该突变可追溯至患者母亲的一个杂合同义突变，而其母亲并无巴特综合征。
