目的 探讨儿童Dent病1型合并肾囊性病变的可能发病原因。方法 回顾1例16岁男性肾囊性病变患儿 的临床资料,并复习相关文献。结果 患儿发现蛋白尿、双肾多发囊肿4年,肾功能异常3年,临床主要表现为肾病水平 的小分子蛋白尿、高钙尿症、肾功能异常并进行性加重、双肾多发囊肿、低钾血症。肾脏病理为局灶节段性肾小球硬化 伴肾小管间质损伤。CLCN5基因突变分析示c.1975delC(p.R659Gfs*7),NPHP相关基因未见突变。诊断为Dent病1 型合并肾囊性病变、慢性肾脏病。结论 Dent病1型合并肾囊性病变较为罕见,其确切机制尚不清楚。
Objective To explore the possible mechanism in childhood Dent disease combined with renal cystic disease. Methods Clinical data were collected and analyzed from 1 childhood Dent disease cases combined with renal cystic disease. Results The case presented with nephrotic level low-molecular weight proteinuria, hypercalciuria, progressive renal failure, multiple cysts in both kidney and hypopotassemia. Renal biopsy showed focal segmental glomerulosclerosis combined with tubulointerstitial damage. Gene mutation analysis showed a hemizygous mutation (c.1975delC, p.R659Gfs*7) in CLCN5 gene, and no positive result on nephronophthisis related genes was found. Conclusions Dent disease combined with renal cystic disease is a rare phenomenon, with reasons unknown.