Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

Abstract Background Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before. Case presentation Here we report a 3-year and 11-mo...

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Bibliographic Details
Main Authors: Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Nephrology
Subjects:
Dent disease 1
CLCN5
Turner syndrome
I(X)(q10)
LMWP
Online Access:http://link.springer.com/article/10.1186/s12882-020-01827-4

Internet

http://link.springer.com/article/10.1186/s12882-020-01827-4

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