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Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication
Univ Orebro, Dept Paediat, Fac Med & Hlth, SE-70182 Orebro, Sweden.;Univ Orebro, Univ Hlth Care Res Ctr, SE-70182 Orebro, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
Univ Orebro, Dept Paediat, Fac Med & Hlth, SE-70182 Orebro, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Endocrinology and mineral metabolism.
2016 (English)In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 85, no 3, p. 213-218Article in journal (Refereed) Published
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Abstract [en]

Background: Partial duplication of 2p is a rare condition that causes facial anomalies, psychomotor delay, and growth failure. Hypercalcaemia is rare in children. So far, duplication of 2p has never been associated with hypercalcaemia. Methods: Here, we report a girl with a partial duplication of 2p presenting with moderate to severe hypercalcaemia at the age of 2 years. She also had hypercalciuria, nephrocalcinosis, decreased renal function, and secondary hyperparathyroidism at presentation. She was thoroughly investigated, including genetic testing of the CYP24A1, CASR, ALPL, and NOD2 genes, to determine the cause of hypercalcaemia. Results: 1,25-dihydroxyvitamin D levels were increased. Hypercalcaemia and hypercalciuria responded well to glucocorticoids but not to cinacalcet. Hyperparathyroidism resolved with improving renal function. Apart from the known duplication of 2p, no pathogenic variants were detected in the studied genes. The duplication of 2p contains the PPP3R1 gene, which encodes for the calcineurin B subunit. Conclusion: We conclude that partial duplication of 2p can be associated with hypercalcaemia and hypercalciuria and hypothesise that the underlying mechanism is an increased extra-renal, parathyroid hormone-independent 25-hydroxyvitamin D 1 alpha-hydroxylase activity, leading to raised amounts of 1,25-dihydroxyvitamin D. The increased enzymatic activity could possibly be caused by calcineurin B subunit-related macrophage stimulation.

Place, publisher, year, edition, pages
2016. Vol. 85, no 3, p. 213-218
Keyword [en]
1, 25-dihydroxyvitamin D, 2p duplication, 25-hydroxyvitamin D 1 alpha-hydroxylase, Hypercalcaemia, Nephrocalcinosis
National Category
Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:uu:diva-297023DOI: 10.1159/000442747ISI: 000373926500007PubMedID: 26675490OAI: oai:DiVA.org:uu-297023DiVA: diva2:945437
Available from: 2016-07-01 Created: 2016-06-21 Last updated: 2017-11-28Bibliographically approved

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Ljunggren, Östen

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