Results 11 to 20 of about 2,467 (196)

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

Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation [PDF]

Life Science Alliance
This study describes how ClC-5, the genetic cause of a rare renal pathology, regulates collagen transcription and degradation, providing a better understanding of disease progression to renal fibrosis. Mutations in Cl − /H + antiporter ClC-5 cause Dent’s
Mònica Durán, Gema Ariceta, Maria E Semidey, Carla Castells-Esteve, Andrea Casal-Pardo, Baisong Lu, Anna Meseguer, Gerard Cantero-Recasens   +7 more
doaj   +2 more sources

Unprecedented coexistence of Dent’s disease type 1 and Wilson’s disease in a two-year-old Chinese boy: implications for precision medicine [PDF]

BMC Nephrology
Background The concurrent diagnosis of Dent’s disease type 1 (DD1) and Wilson’s disease (WD) in a single individual has not been previously documented. The co-occurrence of these two distinct autosomal recessive and X-linked disorders poses significant ...
Qingxian Mao, Wai W. Cheung, Ruochen Che, Fei Zhao, Xueqin Cheng, Guixia Ding   +5 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 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

Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort. [PDF]

J Cell Mol Med
ABSTRACT Dent's disease, an X‐linked recessive disorder predominantly affecting males, is characterized by nephrocalcinosis, nephrolithiasis, and a high risk of progression to end‐stage renal disease. Dent's disease type 1, accounting for 60% of cases, caused by mutations in the CLCN5 gene encoding the chloride ion channel protein ClC‐5, exhibits ...
Wu C, Zhang Y, Chen Z, Fu H, Du Z, Chen L, Wang G, Mao J, Hu L.   +8 more
europepmc   +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

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases. [PDF]

Int J Mol Sci
Dent disease type 1 is characterized by pathogenic CLCN5 gene variants and impaired receptor-mediated endocytosis in proximal tubules. However, mutation-related abnormalities in proximal tubules have not yet been described.
Kalmár T, Jakab D, Maróti Z, Lakatos O, Vas T, Bereczki C, Iványi B.   +6 more
europepmc   +3 more sources