Open AccessA young man with recurrent kidney stones and renal failure
Author(s) -
Jasmeet Gill,
Michael R. Wiederkehr
Publication year - 2020
Publication title -
clinical nephrology - case studies
Language(s) - English
Resource type - Journals
ISSN - 2196-5293
DOI - 10.5414/cncs110198
Subject(s) - nephrocalcinosis , medicine , hypercalciuria , proteinuria , tubulopathy , renal function , kidney stones , kidney , disease , kidney disease , nephrology , pathology , urology , endocrinology , urinary system
Dent disease is an inherited proximal renal tubulopathy leading to low molecular weight proteinuria, hypercalciuria with nephrocalcinosis and nephrolithiasis, and progressive renal failure. Two genetic mutations have been identified. The disease usually presents in childhood or early adult life and may be associated with other proximal tubular defects, which can lead to significant morbidity, especially in children. The disorder can extend to interstitial and glomerular cells, which contributes to progression to end-stage kidney disease. The pathophysiologic process remains incompletely understood, and no specific treatment is available. Dent disease is likely under-recognized. It needs to be included in the differential, especially in young males, presenting with recurrent kidney stones, proteinuria, and impaired renal function.