Dent disease: Clinical Practice Recommendations.

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight (LMW) proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the 3rd and the 5th decades of life in 30-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic range proteinuria which may be misinterpreted and cause diagnostic delay.

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.

Study Design: Case series.

Scoping Review of Economic Analyses of Rare Kidney Diseases.

Introduction: Rare kidney diseases (RKDs) place a substantial economic burden on patients and health systems, the extent of which is unknown and may be systematically underestimated by health economic techniques. We aimed to investigate the economic burden and cost-effectiveness evidence base for RKDs.

Methods: We conducted a systematic scoping review to identify economic evaluations, health technology assessments, and cost-of-illness studies relating to RKDs, published since 2012.

Aquaporin-1 and Osmosis: From Physiology to Precision in Peritoneal Dialysis.

The discovery of the aquaporin family of water channels has provided a molecular counterpart to the movement of water across biological membranes. The distribution of aquaporins in specific cell types, their selectivity and very high capacity for water permeation, and the control of their expression and/or trafficking are key to sustain osmosis in multiple tissues. Here, we review the convergent evidence demonstrating that aquaporin-1 (AQP1) facilitates water transport across endothelial cells in the peritoneal membrane, a key process for peritoneal dialysis-the leading modality of home-based dialysis therapy for patients with kidney failure.