UNASSIGNED: Definition of the urinary protein composition would represent a potential tool for diagnosis in many clinical conditions. The use of new proteomic technologies allows detection of genetic and post-trasductional variants that increase sensitivity of the approach but complicates comparison within a heterogeneous @entity1 population. Overall, this limits research of urinary biomarkers. Studying monogenic diseases are useful models to address this issue since genetic variability is reduced among first- and second-degree relatives of the same family. We applied this concept to @entity24782 , a monogenic condition characterised by low-molecular-weight @entity644 that is inherited following an X-linked trait. Results are presented here on a combined proteomic approach (LC-mass spectrometry, Western blot and zymograms for proteases and inhibitors) to characterise urine proteins in a large family (18 members, 6 hemizygous @entity1 , 6 carrier females, and 6 normals) with @entity24782 due to the @entity60235 mutation of the @entity26746 . Gene ontology analysis on more than 1000 proteins showed that several clusters of proteins characterised urine of affected @entity1 compared to carrier females and normal subjects: proteins involved in extracellular matrix remodelling were the major group. Specific analysis on metalloproteases and their inhibitors underscored unexpected mechanisms potentially involved in renal @entity82 . BIOLOGICAL SIGNIFICANCE: Studying with new-generation techniques for proteomic analysis of the members of a large family with @entity24782 sharing the same molecular defect allowed highly repetitive results that justify conclusions. Identification in urine of proteins actively involved in interstitial matrix remodelling poses the question of active anti-fibrotic drugs in Dent's @entity1 .

Urine proteome analysis in XXXX shows high selective changes potentially involved in chronic renal damage.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity644 :: ('MESH:D011507', 'Disease') :: ['proteinuria'] @entity82 :: ('MESH:D005355', 'Disease') :: ['fibrosis'] @entity24782 :: ('MESH:D057973', 'Disease') :: ["Dent's disease", "Dent's diseases"] @entity26746 :: ('1184', 'Gene') :: ['CLCN5'] @entity60235 :: ('c|SUB|G|1070|T', 'DNAMutation') :: ['1070G>T']
@entity24782 :: (MESH:D057973,Disease) :: ['Dent's disease']
