Laboratory findings in the different causes of osteomalacia and osteoporosis

Disorder	Serum phosphate	Serum calcium	Serum alkaline phosphatase	Parathyroid hormone	25-hydroxyvitamin D*	1,25-dihydroxyvitamin D
Vitamin D deficiency	↓ or N	↓ or N	N or ↑	↑	↓↓	N or ↑ or ↓
Conditions associated with urinary phosphate wasting	↓↓	N	N or ↑	N^¶	N or ↓	N or ↑ or ↓
Proximal renal tubular acidosis^Δ	↓	N	N	N or ↑	N or ↓	N
Hypophosphatasia	N	N	↓	N	N or ↓	N
Osteogenesis imperfecta and axial osteomalacia	N	N	N or ↑	N	N or ↓	N
Osteoporosis	N	N	N	N	N or ↓	N
Chronic kidney disease	N or ↑	N or ↑ or ↓	N or ↑	↑	N or ↓	↓
Mineralization inhibitors	N	N	↑	N	N or ↓	N

N: normal; ↓: reduced; ↓↓: very reduced; ↑: elevated.

* Vitamin D deficiency is common and may be present in osteomalacia of any etiology or in osteoporosis.

¶ Parathyroid hormone may be mildly elevated in some disorders of renal phosphate wasting. Secondary hyperparathyroidism is common in X-linked hypophosphatemia, which can have a subtle presentation and remain undiagnosed until adulthood.

Δ Proximal (type 2) renal tubular acidosis may occur in isolation or in the setting of generalized proximal tubular dysfunction/Fanconi syndrome.

Graphic 65400 Version 4.0

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Laboratory findings in the different causes of osteomalacia and osteoporosis