Results 21 to 30 of about 511,382 (289)

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BMC Nephrology, 2021
Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li   +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

Gunther’s Disease: Esthetic Management of Erythrodontia; 1-year Follow-up [PDF]

International Journal of Prosthodontics and Restorative Dentistry, 2023
Intrinsic tooth stains are more permanent in nature than extrinsic stains and can be divided into two types systemic and local. Erythrodontia is reddish-brown or reddish-black discoloration of teeth caused due to congenital erythropoietic porphyria (CEP)
Pranjal Sharma, Shanthala B Mallikarjun, Sowndarya Gunasekaran   +2 more
doaj   +1 more source

Mutation Update of theCLCN5Gene Responsible for Dent Disease 1 [PDF]

Human Mutation, 2015
Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions.
Mansour-Hendili, Lamisse, Blanchard, Anne, Le Pottier, Nelly, Roncelin, Isabelle, Lourdel, Stéphane, Treard, Cyrielle, González, Wendy, Vergara-Jaque, Ariela, Morin, Gilles, Colin, Estelle, Holder-Espinasse, Muriel, Bacchetta, Justine, Baudouin, Véronique, Benoit, Stéphane, Bérard, Etienne, Bourdat-Michel, Guylhène, Bouchireb, Karim, Burtey, Stéphane, Cailliez, Mathilde, Cardon, Gérard, Cartery, Claire, Champion, Gerard, Chauveau, Dominique, Cochat, Pierre, Dahan, Karin, de La Faille, Renaud, Debray, François-Guillaume, Dehoux, Laurenne, Deschênes, Georges, Desport, Estelle, Devuyst, Olivier, Dieguez, Stella, Emma, Francesco, Fischbach, Michel, Fouque, Denis, Fourcade, Jacques, François, Hélène, Gilbert-Dussardier, Brigitte, Hannedouche, Thierry, Houillier, Pascal, Izzedine, Hassan, Janner, Marco, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Leroy, Valérie, Loirat, Chantal, Macher, Marie-Alice, Martin-Coignard, Dominique, Morin, Denis, Niaudet, Patrick, Nivet, Hubert, Nobili, François, Novo, Robert, Faivre, Laurence, Rigothier, Claire, Roussey-Kesler, Gwenaëlle, Salomon, Rémi, Schleich, Andreas, Sellier-Leclerc, Anne-Laure, Soulami, Kenza, Tiple, Aurélien, Ulinski, Tim, Vanhille, Philippe, van Regemorter, Nicole, Jeunemaitre, Xavier, Vargas-Poussou, Rosa   +67 more
openaire   +5 more sources

A case of Type 1 Dent disease presenting with isolated persistant proteinuria [PDF]

Türk Pediatri Arşivi, 2018
Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years. Some children
Güngör, Tülin, Eroğlu, Fehime Kara, Yazılıtaş, Fatma, Gür, Gökçe, Çakıcı, Evrim Kargın, Ludwig, Michael, Bülbül, Mehmet   +6 more
openaire   +2 more sources

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

Living Kidney Donation in a Type 1 Dent’s Disease Patient from His Mother [PDF]

Kidney and Blood Pressure Research, 2019
<b><i>Introduction:</i></b> Dent’s disease is a rare X-linked recessive disorder that manifests in childhood or early adulthood and can lead to end-stage renal disease (ESRD). It occurs in males, who are hemizygous. In patients who develop ESRD, a deceased donor kidney transplant cures the disease.
Gambaro G., Naticchia A., Ferraro P. M., Spagnoletti G., Romagnoli J., Salerno M. P., Citterio F.   +6 more
openaire   +6 more sources

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BMC Nephrology, 2022
Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou   +9 more
doaj   +1 more source

Patient-centered endodontic outcomes: a narrative review. [PDF]

, 2013
IntroductionRoot canal treatment (RCT) success criteria inform us of the path to bony healing and of prognostic factors, but tell little about how the patient perceives, feels, or values RCT.
Fayazi, Sara, Hamedy, Reza, Pak, Jacklyn G, Shakiba, Bita, White, Shane N   +4 more
core   +3 more sources

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Biomedicines, 2023
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín   +4 more
doaj   +1 more source