The epithelial Na(+) channel (ENaC), located in the apical membrane of renal aldosterone-responsive epithelia, plays an essential role in controlling the Na(+) balance of extracellular fluids and hence blood pressure. As of now, ENaC is the only Na(+) transport protein for which genetic evidence exists for its involvement in the genesis of both hypertension (Liddle's syndrome) and hypotension (...

background: there are only a very small number of reports which discuss subtype, sex distribution, clinical features and laboratory characteristics of autoimmune hepatitis in children. the aim of this study was both to define the clinical features, biochemical and histological findings and also to determine the age and sex related distribution of autoimmune hepatitis (aih). materials and method...

Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disorder of mineralocorticoid resistance characterized by salt wasting, hyperkalemia, high aldosterone levels, and failure to thrive. An autosomal recessive form (AR-PHA1) is caused by mutations in the epithelial sodium channel ENaC with usually severe and persisting multiorgan symptoms. The autosomal dominant form of PHA1 (AD-PHA1) is due to...

t cells have been identified as key players in the pathogenesis of type 1 diabetes. however, the exact role of t-cell subpopulations in this pathway is presently unknown. the purpose of this study was to assess the expression pattern of two lineage-specifying transcription factors gata - 3 and t - bet , which are important in t helper type 1 (th1) and th2 cell development , respectively. gene e...