Rickets - Genes & Biomarkers Summary
Biomarker / Gene
Bad Score
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GENES
PHEX
Pathogenic variant
Family cascade screening
Burosumab (Crysvita)
FGF23
Gain-of-function mut.
Dietary advice
Phosphate + calcitriol
CYP27B1
Biallelic mutation
Vit D-rich diet, sun
Calcitriol / alfacalcidol
VDR
Biallelic mutation
High-calcium diet
High-dose calcitriol
BIOMARKERS
Phosphate (Pi)
<1.0 mmol/L
High-P diet, limit losses
Oral phosphate supplements
ALP
>400 U/L
Weight-bearing activity
Treat underlying rickets
25-OH Vitamin D
<30 nmol/L
Sun exposure, fatty fish
Vit D3 supplements
PTH
>65 pg/mL
Calcium-rich foods
Cinacalcet / surgery