Biochemical evidence of disturbed bone metabolism and calcium homeostasis in two types of autosomal dominant osteopetrosis.

Biochemical markers of bone resorption and bone formation were measured in 14 patients with autosomal dominant osteopetrosis, and compared with age- and sex-matched controls. There were eight patients with the radiological type I characterized by diffuse, symmetrical osteosclerosis with pronounced sclerosis of the skull and enlarged thickness of the cranial vault, and six patients with type II characterized by diffuse, symmetrical osteosclerosis, "Rugger-Jersey spine" and "endobones" (bone within a bone) in the pelvis. Serum levels of alkaline phosphatase and osteocalcin in types I and II did not differ from controls indicating normal bone formation. However, a significantly decreased fasting renal excretion of phosphate and hydroxyproline in both types compared with normal controls, suggests a reduced bone resorption. Serum levels of parathyroid hormone (PTH), albumin-corrected calcium, phosphate, and acid phosphatase were normal in type I. In type II serum levels of albumin-corrected calcium and PTH were significantly increased (p less than 0.05 and p less than 0.01). The level of acid phosphatase was markedly increased in this type (p less than 0.01). These findings suggest differences between the two types in calcium homeostasis and bone metabolism, and thus corroborate the evidence that the two radiological types reflect two different disorders of bone resorption.