hypophosphatemic rickets with hypercalciuria, hereditary

Pathology

• diminished renal phosphate reabsorption
• rickets

Genetics

• autosomal recessive
• associated with defects in SLC34A3

Laboratory

• serum phosphate: hypophosphatemia
• increased serum 1,25-dihydroxyvitamin D3
• increased 24 hour urinary Ca+2 excretion

More general terms

• hereditary rickets

Database

• OMIM: https://mirror.omim.org/entry/241530