BACKGROUND: @entity4861 ( @entity74 ) and @entity9475 ( @entity9475 ) are hereditary salt-losing tubulopathies (SLTs) resulting from defects of renal proteins involved in electrolyte reabsorption, as for @entity2827 cotransporter (NCC) and @entity1483 -sensitive sodium-potassium-chloride cotransporter ( @entity35635 ) cotransporters, affected in @entity74 and @entity9475 Type 1 @entity1 , respectively. Currently, definitive diagnosis is obtained through expensive and time-consuming genetic testing. Urinary exosomes (UE), nanovesicles released by every epithelial cell facing the urinary space, represent an ideal source of markers for @entity8 and injury, because UE molecular composition stands for the cell of origin. On these assumptions, the aim of this work is to evaluate the relevance of UE for the diagnosis of SLTs. METHODS: UE were purified from second morning urines collected from 32 @entity1 with @entity74 ( @entity74 , BS1, BS2 and BS3 @entity1 ), 4 with unclassified SLTs and 22 control subjects (age and sex matched). The levels of NCC and @entity35635 were evaluated in UE by @entity214 -PAGE/western blotting with specific antibodies. RESULTS: Due to their location on the luminal side of tubular cells, NCC and @entity35635 are well represented in UE proteome. The NCC signal is significantly decreased/absent in UE of Gitelman @entity1 compared with control subjects (Mann-Whitney t-test, P < 0.001) and, similarly, the @entity35635 in those of Bartter type 1 (P < 0.001). The difference in the levels of the two proteins allows recognition of Gitelman and Bartter type 1 @entity1 from controls and, combined with clinical data, from other Bartter @entity1 . Moreover, the receiver operating characteristic curve analysis using UE NCC densitometric values showed a good discriminating power of the test comparing @entity74 @entity1 versus controls and @entity9475 @entity1 (area under the curve value = 0.92; sensitivity 84.2% and specificity 88.6%). CONCLUSIONS: UE phenotyping may be useful in the diagnosis of @entity74 and @entity9475 , thus providing an alternative/complementary, urine-based diagnostic tool for SLT @entity1 recognition and a diagnostic guidance in complex cases.

Urinary exosomes in the diagnosis of XXXX .

@entity9475 :: ('MESH:D001477', 'Disease') :: ['Bartter syndrome', 'BS'] @entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity8 :: ('MESH:D007674', 'Disease') :: ['renal dysfunction'] @entity1483 :: ('MESH:D005665', 'Chemical') :: ['furosemide'] @entity35635 :: ('6557', 'Gene') :: ['NKCC2'] @entity4861 :: ('MESH:D053579', 'Disease') :: ['Gitelman syndrome'] @entity74 :: ('MESH:D030342', 'Disease') :: ['GS', 'genetically proven SLTs'] @entity2827 :: ('MESH:D012965', 'Chemical') :: ['sodium-chloride'] @entity214 :: ('CHEBI:8984', 'Chemical') :: ['SDS']
@entity4861 :: (MESH:D053579,Disease) :: ['Gitelman and Bartter syndromes']
