Calcipenic osteomalacia presents with low-to-normal calcium, elevated PTH, hypophosphatemia, elevated alkaline phosphatase, and low urinary calcium. Evaluation requires ruling out pseudohypocalcemia and hypomagnesemia, followed by renal function assessment to distinguish renal osteodystrophy from calcipenic etiology. Paired vitamin D metabolite testing is critical: 25-hydroxyvitamin D assesses storage stores, while calcitriol identifies enzymatic defects (CYP27B1 in VDDR1A, CYP2R1 in VDDR1B) or end-organ resistance (VDDR2A). Non-responders require evaluation for malabsorption, hepatic CYP3A4 induction from antiepileptics, or isolated dietary calcium deficiency. Finally, full vitamin D repletion is necessary to unmask normocalcemic primary hyperparathyroidism, while isolated hypophosphatemia with suppressed calcitriol warrants evaluation for FGF23-mediated oncogenic osteomalacia.
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