Dent-2 Disease: A Mild Variant of Lowe Syndrome
Dent-2 Disease: A Mild Variant of Lowe Syndrome
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DOI：
10.1016/j.jpeds.2009.01.049
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发表时间：
2009-07-01
影响因子：
5.1
通讯作者：
Ludwig, Michael
中科院分区：
文献类型：
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作者：
Bokenkamp, Arend;Bockenhauer, Detlef;Ludwig, Michael
目的比较Dent病、Dent-2病和Lowe综合征患者的肾和肾外表型。研究设计图表回顾作者观察到的93例电压门控氯通道和氯/质子逆向转运体5基因突变和眼脑肾综合征Lowe基因突变患者的数据，并与已发表的数据进行补充。肾钙质沉着症在Dent-1病中更常见，肾小管酸中毒、氨基酸尿和肾衰竭在Lowe综合征患者中更常见。Lowe综合征患者比Dent-1疾病患者矮，Dent-2疾病患者表现出中间表型。3例Dent-2病患者有轻度周围性白内障，9例患者有不同程度的智力低下。结论Dent-2病和Lowe综合征患者存在表型连续体，提示眼脑肾综合征Lowe基因功能丧失的代偿能力存在个体差异。（J Pediatr 2009;155：94-9）。
Objective To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome.Study design Chart review of data from 93 patients with identified voltage-gated chloride channel and chloride/proton antiporter 5 gene and oculo-cerebro-renal syndrome of Lowe gene mutations observed by the authors, complemented with published data.Results There was a wide overlap of renal symptoms. Nephrocalcinosis was more prevalent in Dent-1 disease, and renal tubular acidosis, aminoaciduria, and renal failure was more prevalent in patients with Lowe syndrome. Patients with Lowe syndrome were shorter than patients with Dent-1 disease, and patients with Dent-2 disease showed an intermediate phenotype. Three patients with Dent-2 disease had mild peripheral cataract, and 9 patients were noted to have some degree of mental retardation.Conclusion There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of oculo-cerebro-renal syndrome of Lowe gene function. (J Pediatr 2009;155:94-9).