REVIEW

The investigation of hypocalcaemia and rickets

J Singh¹, N Moghal¹, S H S Pearce², T Cheetham¹

¹ Department of Paediatrics, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne, UK
² Department of Endocrinology, Royal Victoria Infirmary

Correspondence to:
Correspondence to:
Dr T D Cheetham, Department of Paediatrics, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK;
t.d.cheetham{at}ncl.ac.uk

Our understanding of disorders that present with hypocalcaemia has advanced rapidly in the past decade. The molecular basis of many of these disorders and conditions associated with phosphate wasting has now been established. While many children will need specialist involvement, they often will present to general paediatricians, and appropriate investigations prior to intervention will enable early diagnosis. Not all children with hypocalcaemia and low or low normal parathyroid hormone levels have isolated hypoparathyroidism, and clinicians need to be aware of the potential for misdiagnosis. Outpatient departments and paediatric wards should have a readily accessible and comprehensive list of bloods that need to be taken when a child presents with hypocalcaemia or rickets.

Keywords: hypocalcaemia; hypoparathyroidism; parathyroid hormone; rickets

Abbreviations: APECED, autoimmune polyglandular endocrinopathy with candidiasis and ectodermal dystrophy; HDR, hypoparathyroidism, deafness, and renal dysplasia; PTH, parathyroid hormone; PTHrP, parathyroid hormone receptor

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