A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis.

Abstract excerpt

Dent disease is an X-linked proximal tubulopathy that typically presents with hypercalciuria, low-molecular-weight proteinuria and slow progression to endstage renal disease. We report the case of a 5-year-old boy who presented with asymptomatic nephrotic range proteinuria and was later diagnosed with Dent disease. Absence of specific glomerular pathology in the first kidney biopsy led to erroneous treatment for...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Chloride Channels