Results 11 to 20 of about 1,469 (156)

Screening for CLCN5 mutation in renal calcium stone formers patients [PDF]

Anais da Academia Brasileira de Ciências, 2005
Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low ...
Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Sabrina V. Martini, Bruno F. Botelho, William B. Guggino, Marcelo M. Morales   +6 more
doaj   +5 more sources

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

Frontiers in Pediatrics, 2022
BackgroundDent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.Case presentationHere we ...
Jiajia Ni, Yaju Zhu, Fujun Lin, Wenbin Guan, Jing Jin, Yufeng Li, Guimei Guo   +6 more
doaj   +3 more sources

Clinical features and genetic analysis of 15 Chinese children with dent disease [PDF]

Renal Failure
Objective  The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians’ awareness of and attention to this disease.Methods  We ...
Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun   +8 more
doaj   +2 more sources

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study [PDF]

BMC Medical Genomics
Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and ...
Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie   +11 more
doaj   +2 more sources

Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review [PDF]

Journal of International Medical Research
Dent disease is a rare disease with proximal renal tubular dysfunction, and is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Renal failure slowly progresses and end-stage
Youying Mao, Chenxing Zhang, Zhengyu Zhou, Wei Zhou, Lei Yin   +4 more
doaj   +2 more sources

Clinical and CLCN5 genetic mutation analysis of Dent’s disease in children

Linchuang shenzangbing zazhi, 2017
Objective Dent disease is a rare X-linked recessive renal tubular disease.This study aimed to enhance the recognition of dent disease by exploring the clinical characteristics and genetic features.Methods Methods The clinical data of 3 children with Dent
CHEN Guo-qiang, ZHANG Xiao-ge, LI Zhi-juan, CHENG Yin-ping   +3 more
doaj   +1 more source

An overview of Dent disease [PDF]

Childhood Kidney Diseases, 2023
Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice.
Eun Mi Yang, Seong Hwan Chang
doaj   +1 more source

Empagliflozin does not prevent progression of Dent's disease type 1 in a mouse model. [PDF]

Exp Physiol
Abstract Dent's disease is a rare inherited renal disorder characterized by generalized proximal tubule dysfunction with low molecular weight proteinuria, hypercalciuria, and urinary loss of other solutes. The disease is progressive and leads to chronic kidney disease.
de Combiens E, Frachon N, Bignon Y, Fila M, Brossard C, Frère P, Lourdel S.   +6 more
europepmc   +2 more sources

Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene

Stem Cell Research, 2021
The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into ...
Huihui Chen, Yinjuan Ding, Weizhong Zhou, Jiajia Li, Weite Qian, Zhe Zhang, Chao Li, Hongfei Tong, Xing Rong, Maoping Chu, Congde Chen, Dexuan Wang, Xiaoling Guo   +12 more
doaj   +1 more source

Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice

Molecular Therapy: Methods & Clinical Development, 2022
Type 1 Dent disease is caused by changes in chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, which causes the lack or dysfunction of chloride channel ClC-5.
Manish Kumar Yadav, Kyung Whan Yoo, Anthony Atala, Baisong Lu   +3 more
doaj   +1 more source