Results 11 to 20 of about 90,078 (248)

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report [PDF]

BMC Research Notes, 2017
Background Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene.
Randula Ranawaka, Nirmala Dushyanthi Sirisena, Kavinda Chandimal Dayasiri, Andrea G. Cogal, John C. Lieske, Manoji Prabashini Gamage, Vajira H. W. Dissanayake   +6 more
doaj   +2 more sources

Dent Disease Type 1: Still an Under-Recognized Renal Proximal Tubulopathy: A Case Report

Reports, 2022
Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed.
Monika Vitkauskaitė, Agnė Čerkauskaitė, Marius Miglinas   +2 more
doaj   +2 more sources

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease [PDF]

Italian Journal of Pediatrics
Background A prominent feature of Dent disease (DD) is the progressive decline in renal function, with 30% - 80% of male patients advancing to end-stage renal disease between the ages of 30 and 50 years.
Lanqi Zhou, Zuowei Yu, Yuan Yang, Yanxinli Han, Liru Qiu, Yu Zhang, Fengjie Yang, Jianhua Zhou   +7 more
doaj   +2 more sources

Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent’s disease type 1 Spanish patients

Nefrología (English Edition), 2023
Background and objectives: Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic ...
Carla Burballa, Mònica Duran, Cristina Martínez, Gema Ariceta, Gerard Cantero-Recasens, Anna Meseguer   +5 more
doaj   +4 more sources

Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1

Frontiers in Pediatrics
Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5.
Nicolette Murphey, Craig Authement, Paul Hillman, Samhar I. Al-Akash, Kate Richardson   +4 more
doaj   +3 more sources

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

Clinical and genetic characteristics of Dent's disease type 1 in Europe [PDF]

Nephrology Dialysis Transplantation, 2022
ABSTRACT Background Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction, including low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis–nephrocalcinosis, progressive chronic kidney disease (CKD ...
Carla Burballa, Gerard Cantero-Recasens, Larisa Prikhodina, Francesca Lugani, Karlpeter Schlingmann, Petr V Ananin, Martine Besouw, Detlef Bockenhauer, Leire Madariaga, Aurelia Bertholet-Thomas, Francesca Taroni, Mattia Parolin, Peter Conlon, Francesco Emma, Dorella Del Prete, Dominique Chauveau, Linda Koster-Kamphuis, Marc Fila, Andrea Pasini, Isabel Castro, Giacomo Colussi, Marta Gil, Barian Mohidin, Tanja Wlodkowski, Franz Schaefer, Gema Ariceta, Hopital Femme Mère Enfant, Justine Bacchetta, Fabio Paglialonga, Luisa Murer, Ilze Andersone, John A Sayer, Olivia Boyer, Tanja Kersnik Levart, Rina Rus, Dušan Paripović, Esther Rubio Gonzalez, Francisco Nieto, Jakub Zieg, José Ángel Caballero, Julia Vara, Mandy Keijzer-Veen, Pietro Manuel Ferraro, Ramon Gonzalez, Ramon Maria Saracho Rotaeche, Roberta Fenoglio, Sandra Sanz Ballesteros, Serafin Tallon Lobo, Marie Sophie Ghuysen, Flor A Ordóñez Álvarez, Maria Vandyck, Mai Rosenberg, Hjørdis Thorsteinsdottir, Velibor Tasic, Meral Torun Bayram, Sevgi Mir, George Claudiu Costea, Nurdan Yildiz, Javier Lumbreras, Sibel Yel, Rimante Cerkauskiene, Angela La Manna, Elhussein Elhassan, Francesca Ciurli, Anna Meseguer, Monica Duran   +65 more
openaire   +7 more sources

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2 [PDF]

Pediatric Nephrology, 2020
Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing.
Nana Sakakibara, China Nagano, Shinya Ishiko, Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, Yuko Shima, Koichi Nakanishi, Shingo Ishimori, Naoya Morisada, Kazumoto Iijima, Kandai Nozu   +11 more
openaire   +2 more sources

Dent Disease Type 1: A Diagnostic Dilemma and Review

Cureus, 2022
This case report describes a boy with a rare genetic disease that primarily affects the kidneys and has implications on growth and development. Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene.
Soares, Ryan B, Bhat, Naina
openaire   +2 more sources

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