rickets type 2A (hypocalcemic vitamin D-resistant rickets, HVDRR)

Pathology

• end organ unresponsiveness to 1,25-dihydroxyvitamin D3

Genetics

• most frequently autosomal recessive
• associated with defects in vitamin D3 receptor (type 2A)

Clinical manifestations

• severe rickets
• secondary hyperparathyroidism

Laboratory

• hypocalcemia
• serum PTH is elevated

More general terms

• hereditary rickets

Database

• OMIM: https://mirror.omim.org/entry/277440