Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate
Infantile hypercalcemia occurs in approximately 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...
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| Veröffentlicht in: | Pediatrics (Evanston) 2004-10, Vol.114 (4), p.1091-1095 |
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| creator | Cagle, Andrew P Waguespack, Steven G Buckingham, Bruce A Shankar, R. Ravi DiMeglio, Linda A |
| description | Infantile hypercalcemia occurs in approximately 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. |
| doi_str_mv | 10.1542/peds.2003-1146-L |
| format | Article |
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Ravi ; DiMeglio, Linda A</creator><creatorcontrib>Cagle, Andrew P ; Waguespack, Steven G ; Buckingham, Bruce A ; Shankar, R. Ravi ; DiMeglio, Linda A</creatorcontrib><description>Infantile hypercalcemia occurs in approximately 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.</description><identifier>ISSN: 0031-4005</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.2003-1146-L</identifier><identifier>PMID: 15466114</identifier><identifier>CODEN: PEDIAU</identifier><language>eng</language><publisher>Elk Grove Village, IL: Am Acad Pediatrics</publisher><subject>Babies ; Biological and medical sciences ; Calcium, Dietary - administration & dosage ; Care and treatment ; Chromosome aberrations ; Diphosphonates - therapeutic use ; Drug therapy ; Esophagus ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; General aspects ; Humans ; Hypercalcemia ; Hypercalcemia - drug therapy ; Hypercalcemia - etiology ; Infant ; Infusions, Intravenous ; Male ; Malformations ; Medical disorders ; Medical genetics ; Medical research ; Medical sciences ; Medical treatment ; Pediatrics ; Vitamin D - blood ; Williams syndrome ; Williams Syndrome - complications</subject><ispartof>Pediatrics (Evanston), 2004-10, Vol.114 (4), p.1091-1095</ispartof><rights>2004 INIST-CNRS</rights><rights>COPYRIGHT 2004 American Academy of Pediatrics</rights><rights>COPYRIGHT 2004 American Academy of Pediatrics</rights><rights>Copyright American Academy of Pediatrics Oct 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c543t-63cb37cdd1b37d2a9ed7fe7b49f07a9012842d4e708114ec7a51142f993210c13</citedby><cites>FETCH-LOGICAL-c543t-63cb37cdd1b37d2a9ed7fe7b49f07a9012842d4e708114ec7a51142f993210c13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16189081$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15466114$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cagle, Andrew P</creatorcontrib><creatorcontrib>Waguespack, Steven G</creatorcontrib><creatorcontrib>Buckingham, Bruce A</creatorcontrib><creatorcontrib>Shankar, R. Ravi</creatorcontrib><creatorcontrib>DiMeglio, Linda A</creatorcontrib><title>Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>Infantile hypercalcemia occurs in approximately 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.</description><subject>Babies</subject><subject>Biological and medical sciences</subject><subject>Calcium, Dietary - administration & dosage</subject><subject>Care and treatment</subject><subject>Chromosome aberrations</subject><subject>Diphosphonates - therapeutic use</subject><subject>Drug therapy</subject><subject>Esophagus</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>General aspects</subject><subject>Humans</subject><subject>Hypercalcemia</subject><subject>Hypercalcemia - drug therapy</subject><subject>Hypercalcemia - etiology</subject><subject>Infant</subject><subject>Infusions, Intravenous</subject><subject>Male</subject><subject>Malformations</subject><subject>Medical disorders</subject><subject>Medical genetics</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Medical treatment</subject><subject>Pediatrics</subject><subject>Vitamin D - blood</subject><subject>Williams syndrome</subject><subject>Williams Syndrome - complications</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkk2L2zAQhk1p6abb3nsqprCFHpyVZPnrGEK7GzBsIVt6FIo0drTIcirZ2-bYf94xCaQpQaAR6HlnRqM3it5TMqcZZ7c70GHOCEkTSnme1C-iGSVVmXBWZC-jGV7QhBOSXUVvQngihPCsYK-jKxTnOUpm0Z81PIOHeOUa6QZjIb7f78AraRV0RsaLEHpl5AA6_mGGLW7WGtmFeL132vcdxOtRKQihGa3dx48eTuzKDV4-g-vHgFcL3RlnwoDVdPxNdgblDuG30atG2gDvjvE6-v71y-PyPqkf7lbLRZ2ojKdDkqdqkxZKa4pBM1mBLhooNrxqSCErQlnJmeZQkBIfBqqQGUbWVFXKKFE0vY4-HfLufP9zhDCIzgQF1koH2KHI84oXJJvAj_-BT_3oHfYmGBahFDMilBygVloQxjU9vlW14MBL2ztocJRiQVmaFzzNMuTnF3hcGsesLgo-nwmQGeD30MoxBFHe1edscolVvbXQgsAxLh_OeXLgle9D8NCInTed9HtBiZiMJSZjiclYYjKWqFHy4TiUcdOBPgmOTkLg5gjIgO5pvHTKhBOX07LCr0Hu9sBtTbv9ZTxMtdBg3qjwzxFTCo7tVDT9CzGe5lQ</recordid><startdate>20041001</startdate><enddate>20041001</enddate><creator>Cagle, Andrew P</creator><creator>Waguespack, Steven G</creator><creator>Buckingham, Bruce A</creator><creator>Shankar, R. Ravi</creator><creator>DiMeglio, Linda A</creator><general>Am Acad Pediatrics</general><general>American Academy of Pediatrics</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8GL</scope><scope>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>U9A</scope><scope>7X8</scope></search><sort><creationdate>20041001</creationdate><title>Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate</title><author>Cagle, Andrew P ; Waguespack, Steven G ; Buckingham, Bruce A ; Shankar, R. Ravi ; DiMeglio, Linda A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c543t-63cb37cdd1b37d2a9ed7fe7b49f07a9012842d4e708114ec7a51142f993210c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Babies</topic><topic>Biological and medical sciences</topic><topic>Calcium, Dietary - administration & dosage</topic><topic>Care and treatment</topic><topic>Chromosome aberrations</topic><topic>Diphosphonates - therapeutic use</topic><topic>Drug therapy</topic><topic>Esophagus</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>General aspects</topic><topic>Humans</topic><topic>Hypercalcemia</topic><topic>Hypercalcemia - drug therapy</topic><topic>Hypercalcemia - etiology</topic><topic>Infant</topic><topic>Infusions, Intravenous</topic><topic>Male</topic><topic>Malformations</topic><topic>Medical disorders</topic><topic>Medical genetics</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>Medical treatment</topic><topic>Pediatrics</topic><topic>Vitamin D - blood</topic><topic>Williams syndrome</topic><topic>Williams Syndrome - complications</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cagle, Andrew P</creatorcontrib><creatorcontrib>Waguespack, Steven G</creatorcontrib><creatorcontrib>Buckingham, Bruce A</creatorcontrib><creatorcontrib>Shankar, R. 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Ravi</au><au>DiMeglio, Linda A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate</atitle><jtitle>Pediatrics (Evanston)</jtitle><addtitle>Pediatrics</addtitle><date>2004-10-01</date><risdate>2004</risdate><volume>114</volume><issue>4</issue><spage>1091</spage><epage>1095</epage><pages>1091-1095</pages><issn>0031-4005</issn><eissn>1098-4275</eissn><coden>PEDIAU</coden><abstract>Infantile hypercalcemia occurs in approximately 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.</abstract><cop>Elk Grove Village, IL</cop><pub>Am Acad Pediatrics</pub><pmid>15466114</pmid><doi>10.1542/peds.2003-1146-L</doi><tpages>5</tpages></addata></record> |
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| subjects | Babies Biological and medical sciences Calcium, Dietary - administration & dosage Care and treatment Chromosome aberrations Diphosphonates - therapeutic use Drug therapy Esophagus Female Gastroenterology. Liver. Pancreas. Abdomen General aspects Humans Hypercalcemia Hypercalcemia - drug therapy Hypercalcemia - etiology Infant Infusions, Intravenous Male Malformations Medical disorders Medical genetics Medical research Medical sciences Medical treatment Pediatrics Vitamin D - blood Williams syndrome Williams Syndrome - complications |
| title | Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate |
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