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Journal of Clinical Pathology 2002;55:543-544
Copyright © 2002 by the BMJ Publishing Group Ltd & Association of Clinical Pathologists.
Journal of Clinical Pathology 2002;55:543-544
© 2002 Journal of Clinical Pathology

CASE REPORT

Hypercalcaemia in association with trisomy 21 (Down's syndrome)

I J Ramage, A Durkan, K Walker and T J Beattie

The Royal Hospital for Sick Children, Glasgow G3 8SJ, UK

Correspondence to:
Correspondence to:
Dr T J Beattie, The Royal Hospital for Sick Children, Glasgow G3 8SJ, UK;
jim.beattie{at}yorkhill.scot.nhs.uk

ABSTRACT

The combination of hypercalcaemia, hypercalciuria, and nephrocalcinosis with and without renal impairment is rare in paediatric clinical practice. However, this constellation of findings has been reported in three children with trisomy 21, but the absence of detailed nutritional data has failed to clarify the underlying pathogenesis. This report describes a 4 year old girl with trisomy 21 who was found coincidentally to have hypercalcaemia, hypercalciuria, nephrocalcinosis, and renal impairment in the absence of metabolic alkalosis, following a prolonged period of excessive calcium intake.

Keywords: hypercalcaemia; trisomy 21


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This article has been cited by other articles:

  • Tran, H. A, Song, S., Crock, P. A, Mattes, J., Howard, K. (2009). The A, B, C, D of hypercalcaemia in Down syndrome. BMJ Case Reports 2009: bcr0620080232-bcr0620080232 [Abstract] [Full Text]  
  • Jacobs, T. P., Bilezikian, J. P. (2005). Rare Causes of Hypercalcemia. J. Clin. Endocrinol. Metab. 90: 6316-6322 [Abstract] [Full Text]  
  • Moe, O. W., Bonny, O. (2005). Genetic Hypercalciuria. J. Am. Soc. Nephrol. 16: 729-745 [Abstract] [Full Text]  

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