Results 31 to 40 of about 36,234 (283)

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

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   +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

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

Brazilian 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, Luciana dos Santos Henriques, Takashi Igarashi, Takashi Sekine, George Seki, Vera H Koch   +5 more
doaj   +1 more source

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

Stem 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, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang, Sun Woo Lim, Byung Ha Chung   +12 more
doaj   +1 more source

Identifying chemokines as therapeutic targets in renal disease: Lessons from antagonist studies and knockout mice [PDF]

, 2004
Chemokines, in concert with cytokines and adhesion molecules, play multiple roles in local and systemic immune responses. In the kidney, the temporal and spatial expression of chemokines correlates with local renal damage and accumulation of chemokine ...
Abdi R, Anders HJ, Anders HJ, Anders HJ, Bruhl H, Burne-Taney MJ, Feng L, Fituri O, Fujinaka H, Garcia GE, Grone HJ, Keane MP, Mack M, Miura M, Murphy PM, Nath KA, Perez de Lema G, Rollins BJ, Romagnani P, Segerer S, Segerer S, Segerer S, Tang WW, Taub DD, Tesch GH, Tokuda A, Topham PS, Vielhauer V, Vielhauer V, Wada T, Wang Y, Wenzel U, Wu X, Wu X, Zernecke A   +34 more
core   +1 more source

Evaluation of the zucker diabetic fatty (ZDF) rat as a model for human disease based on urinary peptidomic profiles [PDF]

, 2012
Representative animal models for diabetes-associated vascular complications are extremely relevant in assessing potential therapeutic drugs. While several rodent models for type 2 diabetes (T2D) are available, their relevance in recapitulating renal and ...
Antonia Vlahou, Ariela Benigni, B Jonsson, Bernd Mayer, C Delles, C Weyer, C Zoja, Carlamaria Zoja, CD Wenger, CL Oltman, CS Fox, D Theodorescu, Ferdinand H. Bahlmann, H Mischak, H Mischak, Harald Mischak, J Drube, J Toblli, JO Deguchi, Joachim Jankowski, Julie Klein, Justyna Siwy, K Voros, Karin Jandeleit-Dahm, M Hashemi, M Haubitz, N Ahmed, N Verzijl, ND Rawlings, P Zurbig, Paul Perco, PJ Talmud, PR Cutillas, R Rouse, Robert Stevens, S Andersen, S Wild, SA Varghese, Sophia Kossida, T Nakagawa, TW Kurtz, Wiliam Mullen, Y Benjamini, Y Igarashi   +43 more
core   +3 more sources

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

PLoS 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, Paula Frizera Vassallo, Renato de Oliveira Crajoinas, Marilene Luzia Oliveira, Flávia Letícia Martins, Breno Valentim Nogueira, Daisy Motta-Santos, Isabella Binotti Araújo, Ludimila Forechi, Adriana Castello Costa Girardi, Robson Augusto Souza Santos, José Geraldo Mill   +11 more
doaj   +1 more source

Decoding Hypercalcemia and Renal Stones in a Young Adult: Could it be Dent’s Disease?

Clinical Medicine Insights: Case Reports, 2023
Dent’s disease is a rare genetic kidney disorder characterized by proximal tubular dysfunction, nephrocalcinosis, recurrent nephrolithiasis, and chronic kidney disease. Hypercalcemia is a rare finding in this disease. In this report, we present a case of
Meriam Hajji, Hayet Kaaroud, Fethi Ben Hamida, Ezzeddine Abderrahim   +3 more
doaj   +1 more source

Subchronic dietary exposure of rats to cadmium alters the metabolism of metals essential to bone health [PDF]

, 2004
Cadmium (Cd) was recently identified as a risk factor for osteoporosis. Skeletal damage may be the critical effect of low-level long-term exposure to Cd in the general population exposed via food, but the mechanisms behind this are not clearly understood.
Guérin, Thierry, Kolf-Clauw, Martine, Noël, Laurent   +2 more
core   +1 more source

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

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   +1 more source