A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test
A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test
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学校尿检仔细检查后诊断出 OCRL 大缺失的 2 型 Dent 病一例
DOI：
10.1007/s13730-022-00685-3
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发表时间：
2022
期刊：
影响因子：
1
通讯作者：
Kiyohara Koji
中科院分区：
文献类型：
--
作者：
Motoyoshi Yaeko;Yabuuchi Tomoo;Miura Kenichiro;Hattori Motoshi;Kiyohara Koji
一个7岁的男孩来我院做详细的蛋白尿检查。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，发现他的蛋白质、白蛋白和肌酐水平正常;但是，他的乳酸脱氢酶和肌酐磷酸激酶水平略微升高。经组织学检查，未发现肾小球或肾小管异常。考虑到这些结果，我们诊断我们的病人为Dent病2型（DD 2）。虽然全外显子测序显示OCRL的大缺失，这只在Lowe综合征中发现，而在以前的DD 2中没有发现，但我们对该患者的最终诊断是DD 2。在Dent病和Lowe综合征之间存在一个表型连续体，有几个因素改变了OCRL缺陷引起的表型。尽管迄今为止，根据患者的症状诊断为DD 2或Lowe综合征，但对OCRL缺陷病例的积累和分析可能会使诊断更加准确。
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 ofOCRL, 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 inOCRL. Although patients have thus far been diagnosed with DD2 or Lowe syndrome on the basis of their symptoms, accumulation and analysis of cases withOCRLdefects may hereafter enable more accurate diagnoses.
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影响因子：
3.5
作者：
Montjean, Rodrick;Aoidi, Rifdat;Dorseuil, Olivier
通讯作者：
Dorseuil, Olivier
影响因子：
5.3
作者：
Gianesello L;Del Prete D;Anglani F;Calò LA
通讯作者：
Calò LA
Lowe 综合征/Dent-2 疾病：已知和新颖方面的全面回顾
影响因子：
0.4
作者：
F. Recker;H. Reutter;M. Ludwig
通讯作者：
M. Ludwig
DOI：
10.1016/j.bbrc.2008.02.067
发表时间：
2008-05-02
影响因子：
3.1
作者：
McCrea, Heather J.;Paradise, Summer;De Camilli, Pietro
通讯作者：
De Camilli, Pietro
影响因子：
13.2
作者：
Utsch, Boris;Boekenkamp, Arend;Ludwig, Michael
通讯作者：
Ludwig, Michael