scholarly journals Dent disease

2020 ◽  
Author(s):  
Keyword(s):  
Dent Disease

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

2018 ◽  
Vol 5 ◽  
Author(s):  
Min Wen ◽  
Tian Shen ◽  
Ying Wang ◽  
Yongzhen Li ◽  
Xiaoliu Shi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Early Diagnosis ◽  
Case Reports ◽  
Dent Disease ◽  
Next Generation ◽  
Generation Sequencing

Update on Dent Disease

2019 ◽  
Vol 66 (1) ◽  
pp. 169-178 ◽  
Author(s):  
Abdulla M. Ehlayel ◽  
Lawrence Copelovitch
Keyword(s):  
Dent Disease

Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa

2018 ◽  
Vol 32 (8) ◽  
pp. e309-e311 ◽  
Author(s):  
P. Marzuillo ◽  
V. Piccolo ◽  
M. Mascolo ◽  
A. Apicella ◽  
G. Argenziano ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Dent Disease

scholarly journals Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies

2020 ◽  
Vol 21 (2) ◽  
pp. 516 ◽  
Author(s):  
Lisa Gianesello ◽  
Monica Ceol ◽  
Loris Bertoldi ◽  
Liliana Terrin ◽  
Giovanna Priante ◽  
...  
Keyword(s):  
Dent Disease ◽  
Low Molecular Weight ◽  
Disease Genes ◽  
Loss Of Function ◽  
Clcn5 Gene ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Low Molecular Weight Proteins ◽  
Clcn5 Mutations

Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis of low molecular weight proteins. Few studies have analyzed the PT expression of ClC-5 and of megalin and cubilin receptors in DD1 kidney biopsies. About 25% of DD cases lack mutations in either CLCN5 or OCRL genes (DD3), and no other disease genes have been discovered so far. Sanger sequencing was used for CLCN5 gene analysis in 158 unrelated males clinically suspected of having DD. The tubular expression of ClC-5, megalin, and cubilin was assessed by immunolabeling in 10 DD1 kidney biopsies. Whole exome sequencing (WES) was performed in eight DD3 patients. Twenty-three novel CLCN5 mutations were identified. ClC-5, megalin, and cubilin were significantly lower in DD1 than in control biopsies. The tubular expression of ClC-5 when detected was irrespective of the type of mutation. In four DD3 patients, WES revealed 12 potentially pathogenic variants in three novel genes (SLC17A1, SLC9A3, and PDZK1), and in three genes known to be associated with monogenic forms of renal proximal tubulopathies (SLC3A, LRP2, and CUBN). The supposed third Dent disease-causing gene was not discovered.

Polyclonal gammopathy in an adolescent affected by Dent disease 2 and hidradenitis suppurativa

2020 ◽  
Vol 59 (6) ◽  
Author(s):  
Pierluigi Marzuillo ◽  
Roberta Caiazzo ◽  
Crescenzo Coppola ◽  
Ornella Camponesco ◽  
Emanuele Miraglia del Giudice ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Dent Disease ◽  
Polyclonal Gammopathy

scholarly journals Dent disease: A window into calcium and phosphate transport

2019 ◽  
Vol 23 (11) ◽  
pp. 7132-7142 ◽  
Author(s):  
Franca Anglani ◽  
Lisa Gianesello ◽  
Lada Beara‐Lasic ◽  
John Lieske
Keyword(s):  
Phosphate Transport ◽  
Dent Disease

Muscle involvement in Dent disease 2

2014 ◽  
Vol 29 (11) ◽  
pp. 2127-2132 ◽  
Author(s):  
Eujin Park ◽  
Hyun Jin Choi ◽  
Jiwon M. Lee ◽  
Yo Han Ahn ◽  
Hee Gyung Kang ◽  
...  
Keyword(s):  
Dent Disease ◽  
Muscle Involvement
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