Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage

2016 ◽  
Vol 130 ◽  
pp. 26-32 ◽  
Author(s):  
Laura Santucci ◽  
Giovanni Candiano ◽  
Franca Anglani ◽  
Maurizio Bruschi ◽  
Enrica Tosetto ◽  
...  
Keyword(s):  
Renal Damage ◽  
Proteome Analysis ◽  
Dent’S Disease ◽  
Urine Proteome ◽  
Dent's Disease

Alterations of CLC-5 expression, function and trafficking in Dent's disease

2013 ◽  
pp. 1-1
Author(s):  
Caroline Gorvin ◽  
Martijn Wilmer ◽  
Sian Piret ◽  
Brian Harding ◽  
Lambertus van den Heuvel ◽  
...  
Keyword(s):  
Dent’S Disease ◽  
Dent's Disease

Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

2009 ◽  
Vol 24 (12) ◽  
pp. 2369-2373 ◽  
Author(s):  
Yaacov Frishberg ◽  
Dganit Dinour ◽  
Ruth Belostotsky ◽  
Rachel Becker-Cohen ◽  
Choni Rinat ◽  
...  
Keyword(s):  
Focal Glomerulosclerosis ◽  
Dent’S Disease ◽  
Dent's Disease

Reconstruction of associative protein networks connected with processes of sodium exchange regulation and sodium deposition in healthy volunteers based on urine proteome analysis

2012 ◽  
Vol 38 (3) ◽  
pp. 316-323 ◽  
Author(s):  
I. M. Larina ◽  
N. A. Kolchanov ◽  
I. V. Dobrokhotov ◽  
V. A. Ivanisenko ◽  
P. S. Demenkov ◽  
...  
Keyword(s):  
Healthy Volunteers ◽  
Proteome Analysis ◽  
Protein Networks ◽  
Urine Proteome ◽  
Sodium Exchange

scholarly journals Functional analysis of CLCN5 mutations in patients with Dent's disease

2012 ◽  
Vol 26 (S1) ◽  
Author(s):  
Teddy Grand ◽  
Jacques Teulon ◽  
Stéphane Lourdel
Keyword(s):  
Functional Analysis ◽  
Dent’S Disease ◽  
Dent's Disease ◽  
Clcn5 Mutations

Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome

2007 ◽  
Vol 293 (2) ◽  
pp. F456-F467 ◽  
Author(s):  
Annalisa Vilasi ◽  
Pedro R. Cutillas ◽  
Anthony D. Maher ◽  
Severine F. M. Zirah ◽  
Giovambattista Capasso ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Fanconi Syndrome ◽  
Low Molecular Weight ◽  
Renal Fanconi Syndrome ◽  
Dent’S Disease ◽  
H Nmr ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease ◽  
Underlying Mechanisms ◽  
Normal Urine

The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene products are ultimately involved in a common reabsorptive pathway for proteins and low-molecular-mass endogenous metabolites, we compared renal Fanconi urinary proteomes and metabonomes with normal (control) urine using mass spectrometry and1H-NMR spectroscopy, respectively. Urine from patients with low-molecular-weight proteinuria secondary to ifosfamide treatment (tubular proteinuria; TP) was also analyzed for comparison. All four of the disorders studied had characteristic proteomic and metabonomic profiles. Uromodulin was the most abundant protein in normal urine, whereas Fanconi urine was dominated by albumin.1H-NMR spectroscopic data showed differences in the metabolic profiles of Fanconi urine vs. normal urine, due mainly to aminoaciduria. There were differences in the urinary metabolite and protein compositions between the three genetic forms of Fanconi syndrome: cluster analysis grouped the Lowe and Dent's urinary proteomes and metabonomes together, whereas ADIF and TP clustered together separately. Our findings demonstrate a distinctive “polypeptide and metabolite fingerprint” that can characterize the renal Fanconi syndrome; they also suggest that more subtle and cause-specific differences may exist between the different forms of Fanconi syndrome that might provide novel insights into the underlying mechanisms and cellular pathways affected.

scholarly journals Dent’s disease and prevalence of renal stones in dialysis patients in Northeastern Italy

2005 ◽  
Vol 51 (1) ◽  
pp. 25-30 ◽  
Author(s):  
Enrica Tosetto ◽  
Romina Graziotto ◽  
Lina Artifoni ◽  
Josef Nachtigal ◽  
Carmelo Cascone ◽  
...  
Keyword(s):  
Renal Stones ◽  
Dialysis Patients ◽  
Dent’S Disease ◽  
Dent's Disease ◽  
Northeastern Italy
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