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Calcium and Bone Disorders in Children and Adolescents - by Jeremy Allgrove, Nick Shaw

By Jeremy Allgrove, Nick Shaw

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Hypocalcaemia stimulates 1α-hydroxylase activity, but this effect is not a direct effect but mediated via PTH. Plasma phosphate has a direct effect on 1α-hydroxylase activity, although there is some evidence to suggest that this may be modulated by growth hormone (GH); calcitonin may also regulate the enzyme. Its activity is inhibited by FGF23. 1,25(OH)2D is a highly potent compound that circulates in picomolar concentrations. However, measurement of 1,25(OH)2D in plasma gives no measure of vitamin D status.

22 Parfitt AM: Parathyroid growth: Normal and abnormal; in Bilezikian JP, Marcus R, Levine MA (eds): The Parathyroids: Basic and Clinical Concepts. San Diego, Academic Press, 2001. 23 Habener JF, Potts JT Jr: Biosynthesis of parathyroid hormone (second of two parts). N Engl J Med 1978; 299:635–644. 24 Habener JF, Potts JT Jr: Biosynthesis of parathyroid hormone (first of two parts). N Engl J Med 1978; 299:580–585. 25 Kronenberg HM, Bringhurst FR, Segre GV, Potts JT: Parathyroid hormone biosynthesis and metabolism; in Bilezikian JP, Marcus R, Levine MA (eds): The Parathyroids: Basic and Clinical Concepts.

A single enzyme has been identified located in convoluted and straight portions of the proximal renal tubule. Activity is also present in osteoblasts, keratinocytes, and lymphohaematopoietic cells, where 1,25(OH)2D may have an autocrine or paracrine role. During foetal life, 1α-hydroxylase activity is found in the placenta. In pathological states, it is present in the macrophages of sarcoid tissue and subcutaneous fat necrosis (see chapter 7). It is a mitochondrial enzyme Calcium Physiology 27 (CYP27B1) (*609506) consisting of 508 amino acids with considerable homology to other P450 enzymes.

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