Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis

Background and Objectives: Dent disease is a hereditary form of progressive renal failure characterized by hypercalciuria and proximal tubular dysfunction. The clinical presentation is often insidious with the majority of patients remaining asymptornatic throughout childhood. Despite the seemingly mild, early course, more than 20% of 32 asymptornatic patients in one study had biopsy evidence of focal glonterulosclerosis. Furthermore, end-stage renal disease often occurs in men in early to middle adulthood. Design, Setting, Participants, & Measurements: This article describes two male patients who presented with asymptornatic proteirturia and were found to have focal glomerulosclerosis. Despite the absence of nephrocalcinosis on renal ultrasound, the diagnosis of Dent disease was considered because of unexplained proteinuria., Subsequent history revealed renal calculi in each maternal family. Results: The clinical diagnosis of Dent disease was established by intermittent hypercalciuria and low molecular weight proteinuria and confirmed through mutational analysis. Conclusions: It is hypothesized that a diagnosis of Dent disease may be unrecognized in patients with unexplained proteinuria and idiopathic focal glomerulosclerosis.