Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1.

[Renal functional reserve in children with a history of hemolytic uremic syndrome through technetium-99m diethylene-triamine-penta-acetic acid clearance].

Protein loads in normal subjects increase glomerular filtration rate (GFR), which implies a renal functional reserve (RFR). Patients who have suffered a loss in the number of nephrons may show normal values of GFR due to hyperfiltration of remnant nephrons, with subsequent loss of RFR. This could be an early sign of renal damage, and probably a contributory factor to renal damage progress.

Effect of chronic inhibition of converting enzyme on proximal tubule acidification.

The acute effect of angiotensin-converting enzyme inhibition (ACEi) on proximal convoluted tubule (PCT) function is well documented. However, the effect of chronic treatment is less known. The aim of this work was to evaluate the effect of chronic ACEi on PCT acidification (J(HCO(3)(-))).

Renal functional reserve evolution in children with a previous episode of hemolytic uremic syndrome.

Introduction: Glomerular filtration rate (GFR) is the most widely used indicator of kidney function in patients with renal disease, although it does not invariably reflect functional status after renal injury. The concept of renal functional reserve (RFR) as the ability of the kidney to increase GFR following a protein load was introduced in the 1980s. In this study we evaluated the RFR test in 26 children who had developed hemolytic-uremic syndrome (HUS) at least 2 years before the first evaluation, then 8 years later.