10名中国男孩的丹特病诊断与治疗
Diagnosis and treatment of Dent disease in 10 Chinese boys.
作者信息
He Guohua, Zhang Hongwen, Wang Fang, Liu Xiaoyu, Xiao Huijie, Yao Yong
机构信息
Department of Pediatric, Peking University First Hospital, Beijing, China; Department of Pediatric, Foshan Maternal and Children Hospital, Foshan, China.
Department of Pediatric, Peking University First Hospital, Beijing, China.
出版信息
Intractable Rare Dis Res. 2017 Feb;6(1):41-45. doi: 10.5582/irdr.2016.01088.
Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. All 10 childhood cases of Dent disease in China presented with tubular proteinuria in the nephrotic range and hypercalciuria. The ratio of α1-microglobulinuria to microalbuminuria, if close to or above 1, can be used as a diagnostic criterion for tubuloproteinuria. Lotensin was ineffective at treating proteinuria while dihydrochlorothiazide reduced urine calcium excretion.
丹特病是一种罕见的X连锁隐性近端肾小管疾病，主要影响儿童期或成年早期的男性患者。丹特病的临床特征为低分子量蛋白尿（LMWP）、高钙尿症、髓质肾钙质沉着症、肾结石和进行性肾衰竭。对10名中国男孩的丹特病临床特征、诊断和治疗进行了研究。中国所有10例儿童丹特病病例均表现为肾病范围内的肾小管蛋白尿和高钙尿症。α1-微球蛋白尿与微量白蛋白尿的比值若接近或高于1，可作为肾小管蛋白尿的诊断标准。洛汀新治疗蛋白尿无效，而双氢克尿噻可减少尿钙排泄。
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