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Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication
Örebro University, School of Medical Sciences. Department of Paediatrics.ORCID iD: 0000-0002-5292-4913
Immunology, Genetics, and Pathology, University of Uppsala, Uppsala, Sweden.
Department of Paediatrics, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Medical Sciences, University of Uppsala, Uppsala, Sweden.
2016 (English)In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 85, no 3, 213-218 p.Article in journal (Refereed) Published
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 1α-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
Basel: S. Karger, 2016. Vol. 85, no 3, 213-218 p.
Keyword [en]
1, 25-dihydroxyvitamin D; 2p duplication; 25-hydroxyvitamin D 1 alpha-hydroxylase; Hypercalcaemia; Nephrocalcinosis
National Category
Pediatrics Endocrinology and Diabetes
Research subject
Pediatrics
Identifiers
URN: urn:nbn:se:oru:diva-49857DOI: 10.1159/000442747ISI: 000373926500007PubMedID: 26675490OAI: oai:DiVA.org:oru-49857DiVA: diva2:920257
Available from: 2016-04-18 Created: 2016-04-18 Last updated: 2017-10-17Bibliographically approved

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