nephrolithiasis type 2 (Dent disease 1)

Pathology

• renal disease belonging to the 'dent disease complex'
• hypercalciuria
• hypophosphatemia
• aminoaciduria
• nephrocalcinosis
• nephrolithiasis
• renal insufficiency leading to renal failure in adulthood
• rickets (33% of patients)
• osteomalacia

Genetics

• X-linked recessive
• associated with defects in CLCN5

Laboratory

• serum chemistries
  • serum phosphate: hypophosphatemia
• urine chemistries
  • urine calcium
  • urine amino acids

More general terms

• hereditary nephrolithiasis
• Dent disease complex

Database

• OMIM: https://mirror.omim.org/entry/300009