Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Background And Objectives: Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides syndromic DMS, isolated (non-syndromic) DMS (IDMS) has been described. The etiology and pathogenesis of DMS is not understood.

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

Hemolytic uremic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The non-Shiga toxin-associated HUS (atypical HUS [aHUS]) has been shown to be a disease of complement dysregulation. Mutations in the plasma complement regulators factor H and factor I and the widely expressed membrane cofactor protein (MCP; CD46) have been described recently.

Unilateral duplicated system: comparative length and function of the kidneys.

Objective: The objective of this study was to estimate kidney length and function in patients with unilateral duplex kidney.

Materials And Methods: Thirteen patients with a unilateral duplicated system were reviewed retrospectively. The length of the kidneys was measured by ultrasound, and the relative function of the kidneys was estimated by renal scan.