Results 41 to 50 of about 10,935,683 (291)

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

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   +5 more sources

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

BMC Medical Genomics, 2019
Background Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a
Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn   +5 more
doaj   +2 more sources

Dent's disease [PDF]

Orphanet Journal of Rare Diseases, 2010
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show
Devuyst, O
openaire   +6 more sources

Dent's disease [PDF]

Nephrology Dialysis Transplantation, 2005
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show
Neild, G, Thakker, R, Unwin, R, Wrong, O
openaire   +2 more sources

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Genetics Research, 2022
Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao   +12 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

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

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]

, 2015
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo, Daniela Cremasco, Dorella Del Prete, Enrica Tosetto, Franca Anglani, Luciana Bonfante, Luisa Maria Bertizzolo, Maria Antonietta Addis, Monica Ceol, null null   +9 more
core   +2 more sources