Results 1 to 10 of about 89,959 (129)

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report [PDF]

Frontiers in Pediatrics, 2021
Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen, Yan Cao, Liyun Xu, Jingqi Liu, Xiaochuan Wu   +4 more
doaj   +5 more sources

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

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   +4 more sources

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

Frontiers in Medicine, 2018
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,
Min Wen, Min Wen, Tian Shen, Tian Shen, Ying Wang, Ying Wang, Yongzhen Li, Yongzhen Li, Xiaoliu Shi, Xiqiang Dang, Xiqiang Dang   +10 more
doaj   +5 more sources

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report [PDF]

Case Reports in Nephrology and Dialysis
Introduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
Cahyani Gita Ambarsari, Habibah Azzahra Putri Agianda, Meilania Saraswati, Jon Jin Kim   +3 more
doaj   +3 more sources

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function. [PDF]

Hum Mol Genet, 2021
Abstract Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease.
Durán M, Burballa C, Cantero-Recasens G, Butnaru CM, Malhotra V, Ariceta G, Sarró E, Meseguer A.   +7 more
europepmc   +8 more sources

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype. [PDF]

Kidney Int Rep, 2023
Dent disease is an X-linked recessive disorder associated with low molecular weight proteinuria (LMWP), nephrocalcinosis, kidney stones, and kidney failure in the third to fifth decade of life. It consists of Dent disease 1 (DD1) (60% of patients) because of pathogenic variants in the CLCN5 gene and Dent disease 2 (DD2) with changes in OCRL ...
Arnous MG, Arroyo J, Cogal AG, Anglani F, Kang HG, Sas D, Harris PC, Lieske JC.   +7 more
europepmc   +3 more sources

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

BMC Nephrology, 2020
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.
Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao   +6 more
doaj   +2 more sources

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]

Clin Exp Nephrol, 2020
Abstract Background In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases.
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K.   +13 more
europepmc   +4 more sources

Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]

Clin Exp Nephrol, 2021
A correction to this paper has been published: https://doi.org/10.1007/s10157-021-02041 ...
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K.   +13 more
europepmc   +3 more sources

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. [PDF]

Pediatr Nephrol, 2020
Dent disease type 1 (DD1) is a rare X-linked disorder caused mainly by CLCN5 mutations. Patients may present with nephrotic-range proteinuria leading to erroneous diagnosis of focal segmental glomerulosclerosis (FSGS) and unnecessary immunosuppressive treatments.The following cohorts were screened for CLCN5 mutations: Chronic Kidney Disease in Children
Beara-Lasic L, Cogal A, Mara K, Enders F, Mehta RA, Haskic Z, Furth SL, Trachtman H, Scheinman SJ, Milliner DS, Goldfarb DS, Harris PC, Lieske JC, investigators of the Rare Kidney Stone Consortium.   +13 more
europepmc   +4 more sources