Dent disease complex

Introduction

A group of disorders.

Pathology

• proximal renal tubular defect
  • proximal renal tubular acidosis generally not a feature
• hypercalciuria
• nephrocalcinosis
• renal insufficiency

Genetics

type 2 associated with defects in OCRL

Clinical manifestations

• phenotypic features is similar in the various forms, except for differences in severity of bone deformities & renal impairment

Laboratory

• 24 hour urine protein low-molecular-weight proteinuria
• urine chemistries may show features of Fanconi syndrome
  • glycosuria
  • aminoaciduria
  • phosphaturia

More general terms

• genetic disease of the kidney

More specific terms

• hypophosphatemic rickets, X linked recessive
• LMW proteinuria with hypercalciuria & nephrocalcinosis
• nephrolithiasis type 1
• nephrolithiasis type 2 (Dent disease 1)

Database

• OMIM: https://mirror.omim.org/entry/300555