牙病最新进展。

Update on Dent Disease.

作者信息

Ehlayel Abdulla M, Copelovitch Lawrence

机构信息

Division of Nephrology, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.

Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA.

出版信息

Pediatr Clin North Am. 2019 Feb;66(1):169-178. doi: 10.1016/j.pcl.2018.09.003.

DOI:10.1016/j.pcl.2018.09.003

PMID:30454742

Abstract

Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Mutations in both the CLCN5 and OCRL1 genes have been associated with the Dent phenotype and are now classified as Dent-1 and Dent-2, respectively. This article describes the clinical presentation, laboratory evaluation, genetics, pathophysiology, management, and future therapies of Dent disease.

摘要

丹特病是一种X连锁的慢性肾病，其特征为高钙尿症、低分子量蛋白尿、肾钙质沉着症和近端肾小管功能障碍。临床表现高度可变。男性患者可能表现为早发性佝偻病、复发性肾结石，或隐匿地表现为无症状蛋白尿或慢性肾病。CLCN5和OCRL1基因的突变均与丹特表型相关，现在分别被归类为丹特-1型和丹特-2型。本文描述了丹特病的临床表现、实验室评估、遗传学、病理生理学、管理及未来的治疗方法。