Abstract：
A 7-year-old boy visited our hospital for a detailed examination of proteinuria identified in a school urinary test. He had short stature, misaligned teeth, and mild intellectual disability. A urinary examination identified mild proteinuria and extremely high levels of beta-2 microglobulin. On blood examination, his protein, albumin, and creatinine levels were found to be normal; however, his lactate dehydrogenase and creatinine phosphokinase levels were slightly elevated. Upon histological examination, no abnormalities in glomeruli or tubules were found. Considering these results, we diagnosed our patient with Dent disease type 2 (DD2). Although the whole exome sequencing revealed large deletion of OCRL, which was seen only in Lowe syndrome and not in DD2 previously, our final diagnosis for the patient is DD2. A phenotypic continuum exists between Dent disease and Lowe syndrome, and several factors modify the phenotypes caused by defects in OCRL. Although patients have thus far been diagnosed with DD2 or Lowe syndrome on the basis of their symptoms, accumulation and analysis of cases with OCRL defects may hereafter enable more accurate diagnoses.
摘要：
一名7岁男孩到我们医院进行详细检查，检查学校尿检中发现的蛋白尿。他身材矮小，牙齿错位,轻度智力残疾。尿液检查发现轻度蛋白尿和极高水平的β-2微球蛋白。在血液检查中，他的蛋白质,白蛋白,和肌酐水平被发现是正常的;然而，他的乳酸脱氢酶和肌酐磷酸激酶水平略有升高.经过组织学检查,未发现肾小球或肾小管异常。考虑到这些结果,我们诊断患者患有Dent疾病2型（DD2）。尽管整个外显子组测序显示OCRL的大量缺失，这只见于Lowe综合征，而不是以前的DD2，我们对患者的最终诊断是DD2.Dent病和Lowe综合征之间存在表型连续体，和几个因素改变了OCRL缺陷引起的表型。尽管迄今为止根据患者的症状被诊断为DD2或Lowe综合征，OCRL缺陷病例的积累和分析可能会在以后进行更准确的诊断.
