Results 21 to 30 of about 93,897 (194)

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study [PDF]

BMC Medical Genomics
Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and ...
Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie   +11 more
doaj   +2 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   +2 more sources

Dent disease

Zdravniški Vestnik, 2017
Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and ...
Rina R Rus, Kristina Vogrin
doaj   +1 more source

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   +3 more sources

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   +2 more sources

Observations of a large Dent disease cohort [PDF]

Kidney International, 2016
Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or ...
Blanchard, Anne, Curis, Emmanuel, Guyon-Roger, Tiphaine, Kahila, Diana, Treard, Cyrielle, Baudouin, Véronique, Bérard, Etienne, Champion, Gérard, Cochat, Pierre, Dubourg, Julie, de la Faille, Renaud, Devuyst, Olivier, Deschenes, Georges, Fischbach, Michel, Harambat, Jérôme, Houillier, Pascal, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Loirat, Chantal, Merieau, Elodie, Niaudet, Patrick, Nobili, François, Novo, Robert, Salomon, Rémi, Ulinski, Tim, Jeunemaître, Xavier, Vargas-Poussou, Rosa   +27 more
openaire   +3 more sources

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

Kidney Int Rep, 2023
Introduction 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.
Arnous MG, Arroyo J, Cogal AG, Anglani F, Kang HG, Sas D, Harris PC, Lieske JC.   +7 more
europepmc   +2 more sources

Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction? [PDF]

Int J Mol Sci, 2023
Dent disease (DD1) is a rare tubulopathy caused by mutations in the CLCN5 gene. Glomerulosclerosis was recently reported in DD1 patients and ClC-5 protein was shown to be expressed in human podocytes.
Priante G, Ceol M, Gianesello L, Bizzotto D, Braghetta P, Calò LA, Del Prete D, Anglani F.   +7 more
europepmc   +2 more sources

Proteinuria in Dent disease: a review of the literature [PDF]

Pediatric Nephrology, 2016
Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease.
van Berkel, Youri, Ludwig, Michael, van Wijk, Joanna A.E., Bökenkamp, Arend   +3 more
openaire   +4 more sources

Dent Disease Type 1: A Diagnostic Dilemma and Review. [PDF]

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-
Soares RB, Bhat N.
europepmc   +2 more sources