Calcium and Phosphate Metabolism Flashcards
What is a genetic cause of osteomalacia?
Mutations leading to errors in vit D metabolism (rare)
What is a genetic cause of osteomalacia?
Mutations leading to errors in vit D metabolism (rare)
What is a genetic cause of secondary hyperparathyroidism?
• Alpha hydroxylase mutation and/or vit D receptor mutation = low calcium and active calcitriol will be low = high PTH = secondary hyperparathyroidism
What is FGF-23?
What are disorders linked to FGF-23?
FGF-23: a hormone secreted by osteocytes
• Phosphate balance: increases renal excretion
• Disorders:
• Oncogenic osteomalacia (tumour secreting FGF-23)
• X-linked hypophophataemic rickets
• Autosomal dominant hypopho-phataemic rickets (gain of function mutation)