目的：探讨Dent病的诊断及治疗。方法回顾性分析2014年1月至2015年8月收治的曾被外院误诊为肾病综合征的6例Dent病患儿的临床特点、诊治过程以及相关致病基因突变分析。结果6例患儿均为男性，年龄4.5~ 9.8岁，临床主要表现为达肾病水平的蛋白尿，有一过性低白蛋白血症（26~ 30 g/L），均无明显水肿、高胆固醇血症。其中4例患儿行肾活检，2例为轻度系膜增生性肾小球肾炎、2例为局灶节段性肾小球硬化。6例患儿在对足量激素耐药后均联用至少一种或多种免疫抑制剂，蛋白尿均未见明显变化。入院后检查示低分子蛋白尿，肾早期损伤指标α1微球蛋白（α1-MG）与微量白蛋白（MA）的比值均> 1，伴高钙尿症、不伴肾功能异常，其中2例B超可见肾脏钙化影像，符合Dent病临床诊断。进一步的基因分析证实6例患儿均存在CLCN5基因致病突变。结论作为一种罕见的遗传性肾小管疾病，Dent病在临床上易被误诊误治，应引起临床儿科医师的重视。肾早期损伤指标α1-MG/MA> 1，可作为肾小管性蛋白尿的诊断标准之一。%Objective To explore the diagnosis and treatment of Dent’s disease.MethodsThe clinical characteristics, treatment process and disease-causing gene mutation were retrospectively analyzed in 6 pediatric patients with Dent’s disease misdiagnosed of nephritic syndrome from January 2014 to August 2015.ResultsIn these 6 male patients aged 4.5-9.8 years old, the main clinical manifestations were nephropathy-level of proteinuria and transient low serum albumin (26-30 g/L) without obvious edema or high serum cholesterol. In 4 patients who had renal biopsy, 2 cases showed mesangial proliferative glomerulonephritis and other 2 cases showed focal segmental glomerulosclerosis. All of 6 patients were treated with at least one immunosuppressive agent after resistance to full dose of hormone and no changes in proteinuria were observed. After admission, the indexes of early renal damage and urinary protein electrophoresis pointed to low-molecular proteinuria. The ratio of alpha 1 micro albumin (α1-MG) / micro albumin (MA) (the early renal damage index) was > 1, there was hypercalciuria, and renal function was normal. The B ultrasonography showed renal calciifcation in 2 patients. The ifndings in all the patients were in accord with the clinical diagnosis of Dent’s disease. Further genetic analysis conifrmed the presence ofCLCN5 gene mutation in these 6 patients.ConclusionAs a type of rare inherited renal tubular disorder, Dent’s disease is easily misdiagnosed, to which pediatricians need to pay attention. The early renal damage index, α1-MG/MA > 1, can be regarded as one of the diagnostic criteria of renal tubular proteinuria.
展开▼
