hypophosphatemic nephrolithiasis/osteoporosis

Pathology

• hypophosphatemia results from idiopathic renal phosphate loss leading to hypophosphatemic nephrolithiasis & hypophosphatemic osteoporosis

Genetics

• associated with defects in SLC9A3R1 (type 2)

Laboratory

• serum phosphate: hypophosphatemia

More general terms

• genetic disease of the kidney

Database

• OMIM: https://mirror.omim.org/entry/612287