nephrolithiasis type 1

Pathology

• renal disease belonging to the 'dent disease complex'
• hypercalciuria, nephrocalcinosis, renal stones & renal insufficiency
• urinary acidification apparently intact
• rickets, & osteomalacia

Genetics

• X-linked recessive
• associated with defects in CLCN5

More general terms

• hereditary nephrolithiasis
• Dent disease complex

Database

• OMIM: https://mirror.omim.org/entry/310468