Belgian Journal of Paediatrics
The Diagnostic Approach of Hypercalcaemia in Childhood
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Keywords

Hypercalcaemia
Vitamin D
CYP24A1
Idiopathic Infantile Hypercalcaemia (IIH)
Infantile hypercalcaemia (IH)

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How to Cite

Preuss, V., Dossche, L., Raes, A., Prytula, A., Dehoorne, J., Renson, T., Deylgat, J., Kempen, T., De Waele, K., & Snauwaert, E. (2024). The Diagnostic Approach of Hypercalcaemia in Childhood: An Illustrative Case Report and Narrative Literature Review. Belgian Journal of Paediatrics, 26(4), 299–304. Retrieved from https://belgjpaediatrics.com/index.php/bjp/article/view/328

Abstract

In this narrative review, we discuss the case of a 5-month-old girl who presented with feeding difficulties, failure to thrive, and clinical signs of dehydration. Blood examination revealed hypercalcaemia, elevated 1,25-dihydroxyvitamin D levels and suppressed parathyroid hormone. Renal ultrasound revealed nephrocalcinosis. Genetic testing identified two pathogenic variants in the CYP24A1 gene and confirmed the clinical diagnosis of infantile hypercalcaemia (IH), formerly known as idiopathic infantile hypercalcaemia (IIH). This patient’s hypercalcaemia normalised with fluid administration, dietary adjustments, discontinuation of vitamin D supplementation, and adjuvant treatment with fluconazole and intravenous bisphosphonates (pamidronate). Awareness of hypercalcaemia symptoms is crucial for accurate diagnosis, treatment, and prevention of complications. This manuscript highlights the clinical, biochemical, and management aspects of hypercalcaemia in childhood, including a flowchart of the diagnostic approach.

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