Results 21 to 30 of about 21,048 (245)

Urinary retinol binding protein is a marker of the extent of interstitial kidney fibrosis. [PDF]

open access: yesPLoS ONE, 2014
Currently, a non-invasive method to estimate the degree of interstitial fibrosis (IF) in chronic kidney disease is not available in routine. The aim of our study was to evaluate the diagnostic performance of the measurement of urinary low molecular ...
Nicolas Pallet   +11 more
doaj   +1 more source

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

open access: yesFrontiers 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   +6 more
doaj   +1 more source

Clinical and biochemical characteristics of patients with renal tubular acidosis in Southern part of West Bengal, India: A retrospective study

open access: yesIndian Journal of Endocrinology and Metabolism, 2021
Purpose of the Study: Reversible proximal tubular dysfunction associated with distal renal tubular acidosis (dRTA) mimics type 3 RTA, a condition classically associated with features of both proximal RTA (pRTA) and dRTA.
Partha Pratim Chakraborty   +5 more
doaj   +1 more source

Therapy with 2′-O-Me Phosphorothioate Antisense Oligonucleotides Causes Reversible Proteinuria by Inhibiting Renal Protein Reabsorption

open access: yesMolecular Therapy: Nucleic Acids, 2019
Antisense oligonucleotide therapy has been reported to be associated with renal injury. Here, the mechanism of reversible proteinuria was investigated by combining clinical, pre-clinical, and in vitro data.
Manoe J. Janssen   +10 more
doaj   +1 more source

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

open access: yesFrontiers 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   +10 more
doaj   +1 more source

Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene

open access: yesStem Cell Research, 2021
Dent disease (DD) is a rare X-linked proximal tubulopathy associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and phosphoruria, which may progress to chronic kidney disease (CKD).
Lidan Hu   +7 more
doaj   +1 more source

The long-term use of enalapril and hydrochlorothiazide in two novel mutations patients with Dent's disease type 1

open access: yesBrazilian Journal of Nephrology, 2012
Dent's disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure.
Maria Helena Vaisbich   +5 more
doaj   +1 more source

An overview of Dent disease [PDF]

open access: yesChildhood 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

Generation of a human induced pluripotent stem cell line from a patient with dent disease

open access: yesStem Cell Research, 2023
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang   +12 more
doaj   +1 more source

Renal Effects and Underlying Molecular Mechanisms of Long-Term Salt Content Diets in Spontaneously Hypertensive Rats. [PDF]

open access: yesPLoS ONE, 2015
Several evidences have shown that salt excess is an important determinant of cardiovascular and renal derangement in hypertension. The present study aimed to investigate the renal effects of chronic high or low salt intake in the context of hypertension ...
Rebeca Caldeira Machado Berger   +11 more
doaj   +1 more source

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