Hereditary 1, 25-dihydroxyvitamin D resistant rickets
PJ Malloy, D Tiosano, D Feldman - Vitamin D, 2018 - Elsevier
Multiple different mutations in various domains along the vitamin D receptor (VDR) gene are
the basis of hereditary 1, 25-dihydroxyvitamin-resistant rickets (HVDRR), also known as
vitamin D-dependent rickets type II. HVDRR is characterized by early onset hypocalcemia,
secondary hyperparathyroidism and elevated serum 1, 25 (OH) 2 D concentrations and
unresponsiveness (resistance) to endogenous or exogenous 1, 25 (OH) 2 D in infants.
Parents, often heterozygote carriers, are essentially normal and the recessive disease is …
the basis of hereditary 1, 25-dihydroxyvitamin-resistant rickets (HVDRR), also known as
vitamin D-dependent rickets type II. HVDRR is characterized by early onset hypocalcemia,
secondary hyperparathyroidism and elevated serum 1, 25 (OH) 2 D concentrations and
unresponsiveness (resistance) to endogenous or exogenous 1, 25 (OH) 2 D in infants.
Parents, often heterozygote carriers, are essentially normal and the recessive disease is …