Ontology highlight
ABSTRACT:
SUBMITTER: Gill J
PROVIDER: S-EPMC7643200 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Gill Jasmeet J Wiederkehr Michael R MR
Clinical nephrology. Case studies 20201103
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 ...[more]