Dent-Wrong disease and other rare causes of the Fanconi syndrome.
Dent-Wrong disease and other rare causes of the Fanconi syndrome.
复制标题
DOI：
10.1093/ckj/sfu070
复制
发表时间：
2014-08
影响因子：
4.6
通讯作者：
Ing TS
中科院分区：
文献类型：
--
作者：
Solano A;Lew SQ;Ing TS
Dent-Wrong 病是一种 X 连锁隐性近曲小管疾病，表现为高钙尿症、肾钙质沉着症、肾结石、肾功能不全、低分子量蛋白尿、佝偻病和/或骨软化症。 Dent 和 Friedman 于 1964 年对两名患有佝偻病的患者进行了研究，这些患者表现为高钙尿症、高磷酸盐尿症、蛋白尿和氨基酸尿症，最初对这种疾病进行了研究。此后，广泛的研究发现了两种与 Dent-Wrong 病相关的基因突变（CLCN5 和 OCRL1）。与近曲小管功能障碍一致的实验室检查结果支持的临床特征有助于诊断 Dent-Wrong 病。基因分析支持诊断；然而，这两个基因在一小部分患者中可能是正常的。鉴别诊断包括其他形式的范科尼综合征，可以是遗传性的或获得性的（例如与接触外源性物质有关的那些）。治疗为支持性治疗，特别注意预防肾结石和治疗高钙尿症。我们回顾了范可尼综合征的罕见形式，特别关注 Dent-Wrong 病。
Dent–Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia. Dent and Friedman initially characterized the disorder in 1964 following studies of two patients with rickets who presented with hypercalciuria, hyperphosphaturia, proteinuria and aminoaciduria. Since then, extensive investigation identified two genetic mutations (CLCN5 and OCRL1) to be associated with Dent–Wrong disease. Clinical features supported by laboratory findings consistent with proximal tubule dysfunction help diagnose Dent–Wrong disease. Genetic analysis supports the diagnosis; however, these two genes can be normal in a small subset of patients. The differential diagnosis includes other forms of the Fanconi syndrome, which can be hereditary or acquired (e.g. those related to exposure to exogenous substances). Treatment is supportive with special attention to the prevention of nephrolithiasis and treatment of hypercalciuria. We review the rare forms of Fanconi syndrome with special attention to Dent–Wrong disease.