Be aware of underlying Dent’s disease in young boys with massive proteinuria.
Be aware of underlying Dent’s disease in young boys with massive proteinuria.
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对于患有大量蛋白尿的小男孩，请注意潜在的登特氏病。
DOI：
10.1111/ped.15377
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发表时间：
2022
影响因子：
1.4
通讯作者：
Tanaka H.
中科院分区：
文献类型：
--
作者：
Mori-Ishiguro M;Fujita M;Aizawa T;Tsugawa K;Mattinzoli D;Nozu K;Tanaka H.
登特氏病（DD，OMIM# 300009）是一种罕见的X连锁隐性近端肾小管病变，其特征为低分子量蛋白尿（LMWP）、高钙尿、肾结石、肾钙质沉着和进行性肾衰竭。1在DD-1（OMIM# 300008）中发现了氯电压门控通道5基因（CLCN 5）的致病性变体，1同时有报道表明，一些DD患者表现出肾病范围的蛋白尿，但无低白蛋白血症。2有趣的是，据报道，大多数日本DD患者的临床体征比欧洲/美国DD患者轻，3，4部分原因是日本学龄儿童在泌尿系统筛查系统中早期发现了该疾病。[4]事实上，早发性大量蛋白尿或范可尼综合征在日本DD儿童中很少见。3，4我们最近经历了两名患有DD-1的男孩，他们在3岁时的定期健康检查（RHC 3）中首次发现大量蛋白尿，其中一例并发Fanconi综合征。患者1是一名9岁的男孩，有6年的肾病范围蛋白尿病史，在RHC 3期间被确定为大量蛋白尿（5.2 g/g肌酐）。他还被诊断为部分范可尼综合征（LMWP、多饮、多尿和氨基酸尿），并在地区医院接受观察。他的病史和家族史并不明显。在我院就诊时，他的身高为117 cm（-1.8 SD），体重为19.5 kg（-1.7 SD），血压为101/70 mmHg。体格检查结果正常，无外周水肿。尿分析显示，尿比重为1.011，pH值为7.5，蛋白质为87 mg/dL（3.0 g/g肌酐），糖尿1+，血尿2+。他的尿β2-微球蛋白（β 2 MG）水平和钙/肌酐比值分别显著升高至34，690 µg/L（正常，< 300 µg/L）和0.73 g/g肌酐（正常，0.11-0.25 g/g肌酐）。实验室
Dent’s disease (DD, OMIM# 300009) is a rare X-linked recessive proximal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. 1 Pathogenetic variants of chloride voltage-gated channel 5 gene (CLCN5) have been found in DD-1 (OMIM# 300008), 1 while reports have indicated that some patients with DD exhibit nephrotic-range proteinuria without hypoalbuminemia. 2 Interestingly, most Japanese patients with DD reportedly show milder clinical signs than European/USA patients with DD, 3, 4 partly due to early detection of the disease in the urinary screening system in Japanese school children. 4 Indeed, early-onset massive proteinuria or Fanconi syndrome are rarely seen in Japanese children with DD. 3, 4 We recently experienced two young boys with DD-1 in whom initial recognition of massive proteinuria was detected at a regular health check at 3 years of age (RHC3), with one case complicated by Fanconi syndrome.Patient 1 was a 9-year-old boy with a 6-year history of nephrotic-range proteinuria who was identified as having massive proteinuria (5.2 g/g creatinine) during RHC3. He was also diagnosed with partial Fanconi syndrome (LMWP, polydipsia, polyuria, and aminoaciduria) and observed at a regional hospital. His medical and family history was unremarkable. At presentation to our hospital, his height was 117cm (-1.8 SD), weight was 19.5 kg (-1.7 SD), and blood pressure was 101/70 mmHg. Physical examination results were normal without peripheral edema. On urinalysis, specific gravity was 1.011, pH 7.5, protein 87 mg/dL (3.0 g/g creatinine), 1+ of glucosuria and 2+ of hematuria. His urinary β2-microgloblin (β2MG) level and calcium/creatinine ratio were markedly increased to 34,690 µg/L (normal,< 300 µg/L) and 0.73 g/g creatinine (normal, 0.11–0.25 g/g creatinine), respectively. Laboratory