Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

Author:

Cagle Andrew P.1,Waguespack Steven G.2,Buckingham Bruce A.3,Shankar R. Ravi1,DiMeglio Linda A.1

Affiliation:

1. Department of Pediatrics, Section of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, Indiana

2. Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas M. D. Anderson Cancer Center, Houston, Texas

3. Section of Pediatric Endocrinology and Diabetology, Stanford University School of Medicine, Stanford, California

Abstract

Infantile hypercalcemia occurs in ∼15% 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.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

Reference35 articles.

1. Online Mendelian Inheritance in Man. MIM no. 194050. Baltimore, MD: Johns Hopkins University; 2003. Available at: www.ncbi.nlm.nih.gov/omim. Accessed November 18, 2003

2. Sadler LS, Robinson LK, Verdaasdonk KR, Gingell R. The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet. 1993;47:468–470

3. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11–16

4. Urban Z, Helms C, Fekete G, et al. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996;59:958–962

5. Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999;8:1947–1954

Cited by 49 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Hypercalcemia due to vitamin D toxicity;Feldman and Pike's Vitamin D;2024

2. Disorders of Calcium and Phosphorus Metabolism;Avery's Diseases of the Newborn;2024

3. Genetic causes of neonatal and infantile hypercalcaemia;Pediatric Nephrology;2021-05-14

4. Evaluation and Treatment of Pediatric Calcium Disorders;Current Treatment Options in Pediatrics;2021-04-15

5. Anesthetic Considerations for Patients With Williams Syndrome;Journal of Cardiothoracic and Vascular Anesthesia;2021-01

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3