Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)

Aim: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). Results: We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up. Conclusion: Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.

Palabras clave: HYPERCALCAEMIA , HYPERCALCIURIA , PAMIDRONATE , WILLIAMS-BEUREN SYNDROME

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Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)

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URI: http://hdl.handle.net/11336/123128

DOI: http://dx.doi.org/ 10.1080/08035250410026635

URL: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2004.tb02703.x

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Articulos(INIGEM)
Articulos de INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO

Citación

Oliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.; Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate); Wiley Blackwell Publishing, Inc; Acta Paediatrica; 93; 7; 7-2004; 1002-1003

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