MBD Flashcards
Hypercalcemia, metabolic alkalosis, renal insufficiency
Milk- alkali syndrome
Hypophosphatemia, Renal phosphate wasting, inappropriately low 1, 25 D
Tumor induced osteomalacia
Hypercalcemia, high calcitriol, low PTH, normal 25 OH D, and no granulomatous dz. responds to low dose glucocorticoids. May have high ACE.
Idiopathic calcitriol induced hypercalcemia.
Idiopathic infantile hypercalcemia
Inactivating mutation of cyp24A1 (24 hydroxylase -which inactivates 1, 25 D and converts 25 D to inactive 24,25 D.
Can happen in adults as well but ACE normal.
Familial hypocalciuric Hypercalcemia
AD inactivating mutation of CaSR gene: need higher serum ca to suppress PTH and to reduce ca re absorption in CTAL.
24 hr urine excretion<150mg
PTH high
Calcitriol nl
Hypercalcemia is not sensed by target organs like GI tract
Subperiosteal re absorption
Bone cysts
Pathological fractures
Osteitis fibrosa cystic a
Radio Lucent lesions. Bone cysts w thin sclerotic margins. Thickened rotator cuff or biceps synovial sheath
Congo red staining
Apple green birefringence under polarized light
Fat pad bx not useful
Dialysis related amyloid