A young man with recurrent kidney stones and renal failure
Jasmeet Gill1, Michael R. Wiederkehr1,2
1 Baylor University Medical Center, Division of Nephrology, Department of Internal Medicine, and 2 Texas A&M Health Science Center College of Medicine, Dallas Campus, Dallas, TX, USA
DOI 10.5414/CNCS110198
Abstract
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.
Author Details
Authors
Departments
- 1 Baylor University Medical Center, Division of Nephrology, Department of Internal Medicine, and
- 2 Texas A&M Health Science Center College of Medicine, Dallas Campus, Dallas, TX, USA
Address
Jasmeet Gill, MD, Baylor University Medical Center, Department of Internal Medicine, Nephrology Fellowship, 3500 Gaston Avenue, Dallas, TX 75246, USA
Email:
[email protected]
Citation
Jasmeet Gill and Michael R. Wiederkehr.A young man with recurrent kidney stones and renal failure. 2020; 8: 85-90. doi: 10.5414/CNCS110198.
