XXXX : Spectrum of clinical manifestations caused by different mutations.

@entity1 @entity8 @entity5838 @entity918 @entity2865 @entity1373 @entity1372 @entity1483 @entity19377 @entity4861 @entity74 @entity972 @entity209 @entity1412 @entity1368 @entity1371 @entity10673
@entity4861 ( @entity10673 and @entity1412 ) are @entity74 resulting in defects in @entity8 of @entity1372 , @entity972 and @entity2865 . Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of @entity2865 reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic @entity209 such as @entity1371 , @entity5838 , @entity1373 of the juxtaglomerular apparatus with hyperreninemia, @entity1368 , the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of @entity2865 from baseline after administration of either @entity918 or @entity1483 show very little change (< 2.3%) in the fractional excretion of @entity2865 from baseline in @entity1412 when compared with @entity10673 , except when @entity10673 is associated with @entity19377 mutations where a good response to both diuretics exists. The diuretic test is not recommended for @entity1 or young @entity1 with suspected @entity10673 because of a higher risk of volume depletion in such @entity1 . Clinical symptoms and biochemical markers of @entity1412 and classic form of @entity10673 (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although @entity10673 and @entity1412 usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations.
