Ontology highlight
ABSTRACT:
SUBMITTER: Bezdicka M
PROVIDER: S-EPMC7655776 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Bezdíčka Martin M Langer Jan J Háček Jaromír J Zieg Jakub J
Frontiers in pediatrics 20201028
Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present inter ...[more]