期刊
PEDIATRICS
卷 114, 期 4, 页码 1091-1095出版社
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2003-1146-L
关键词
Williams syndrome; bisphosphonate; hypercalcemia; pamidronate
类别
Infantile hypercalcemia occurs in similar to15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.
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