Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, and chronic kidney disease. Infants may mani...

Full description

Bibliographic Details
Main Authors: Min Wen, Tian Shen, Ying Wang, Yongzhen Li, Xiaoliu Shi, Xiqiang Dang
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Medicine
Subjects:
dent disease 1
next-generation sequencing
low molecular weight proteinuria
CLCN5 gene mutation
early diagnosis
Online Access:https://www.frontiersin.org/article/10.3389/fmed.2018.00347/full

Internet

https://www.frontiersin.org/article/10.3389/fmed.2018.00347/full

Similar Items