Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation
Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follo...
Gespeichert in:
Veröffentlicht in: | Journal of Pediatric Endocrinology and Metabolism 2008-08, Vol.21 (8), p.811-818 |
---|---|
Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 818 |
---|---|
container_issue | 8 |
container_start_page | 811 |
container_title | Journal of Pediatric Endocrinology and Metabolism |
container_volume | 21 |
creator | Barros, E.R. Dias da Silva, M.R. Kunii, I.S. Lazaretti-Castro, M. |
description | Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follow-up of two brothers with OPPG carrying a novel mutation in the LRP5 gene, who were treated with intravenous pamidronate.
We looked for a mutation in the LRP5 gene in two brothers (12 and 4 years old) with clinical features of OPPG (blindness, low BMD and fragility fractures) and in their consanguineous parents to confirm the diagnosis of OPPG. The patients were treated with bisphosphonate for 3 years. They received 1 mg/kg/day of pamidronate for 2 consecutive days, every 3 months during the first year, and every 4 months in subsequent years. Calcium, phosphorus, total alkaline phosphatase, parathyroid hormone, hepatic transaminases, creatinine and hemogram tests were performed before each infusion. Bone densitometry was performed at baseline and at the end of the follow-up.
The affected brothers carry a missense mutation in the third codon of exon 8 (AAT-->ATT) that led to the exchange of an asparagine for an isoleucine (N531I). Both parents were found to be heterozygous for this mutation. The intravenous pamidronate therapy was safe for up to 3 years of use. Moreover, increased BMD and decreased fracture rate were observed in our patients with OPPG. |
doi_str_mv | 10.1515/JPEM.2008.21.8.811 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_69607260</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>69607260</sourcerecordid><originalsourceid>FETCH-LOGICAL-c339t-5f64cf9631b2d8663dd6cc218ff0113012db3402a14563dc51a61ef50427be1f3</originalsourceid><addsrcrecordid>eNpFkM2O0zAURi0EYqphXoAF8goxiwRfO3bdJVTzq46agSABG8tN7KkhiYOdqPQBeG9ctYLVle493yfdg9BrIDlw4O_vy6uHnBIicwq5zCXAMzSjsICMUA7P0YwwVmQE5NczdBHjD0IIEGDA2Ut0BlJSLiWboT_VNhiDvxkdIr72bet32TRgb3GpO9cE3-vR4Gprgh722PW42nn8MfgxbSLeuXGL13E0fvDBRxezMpqp8U-t853Gn_d9augMfrcuy5tLvNQh7F3_hHWPV59Kjh-mUY_O96_QC6vbaC5O8xx9ub6qlrfZan1zt_ywymrGFmPGrShquxAMNrSRQrCmEXVNQVpLABgB2mxYQaiGgqdjzUELMJaTgs43Biw7R2-PvUPwvyYTR9W5WJu21b3xU1RiIcicCpJAegTr9FYMxqohuE6HvQKiDv7Vwb86-FcUlFTJfwq9ObVPm840_yMn2wnIjoBLyn7_u-vwU4k5m3P1WBWKVY8VYbffVcn-App6kGM</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>69607260</pqid></control><display><type>article</type><title>Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation</title><source>MEDLINE</source><source>De Gruyter journals</source><creator>Barros, E.R. ; Dias da Silva, M.R. ; Kunii, I.S. ; Lazaretti-Castro, M.</creator><creatorcontrib>Barros, E.R. ; Dias da Silva, M.R. ; Kunii, I.S. ; Lazaretti-Castro, M.</creatorcontrib><description>Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follow-up of two brothers with OPPG carrying a novel mutation in the LRP5 gene, who were treated with intravenous pamidronate.
We looked for a mutation in the LRP5 gene in two brothers (12 and 4 years old) with clinical features of OPPG (blindness, low BMD and fragility fractures) and in their consanguineous parents to confirm the diagnosis of OPPG. The patients were treated with bisphosphonate for 3 years. They received 1 mg/kg/day of pamidronate for 2 consecutive days, every 3 months during the first year, and every 4 months in subsequent years. Calcium, phosphorus, total alkaline phosphatase, parathyroid hormone, hepatic transaminases, creatinine and hemogram tests were performed before each infusion. Bone densitometry was performed at baseline and at the end of the follow-up.
The affected brothers carry a missense mutation in the third codon of exon 8 (AAT-->ATT) that led to the exchange of an asparagine for an isoleucine (N531I). Both parents were found to be heterozygous for this mutation. The intravenous pamidronate therapy was safe for up to 3 years of use. Moreover, increased BMD and decreased fracture rate were observed in our patients with OPPG.</description><identifier>ISSN: 0334-018X</identifier><identifier>EISSN: 2191-0251</identifier><identifier>DOI: 10.1515/JPEM.2008.21.8.811</identifier><identifier>PMID: 18825883</identifier><language>eng</language><publisher>Germany: De Gruyter</publisher><subject>Antineoplastic Agents - therapeutic use ; Blindness - complications ; Blindness - congenital ; Blindness - genetics ; Bone Density - drug effects ; Bone Density Conservation Agents - therapeutic use ; Child ; Child, Preschool ; Consanguinity ; Diphosphonates - therapeutic use ; Follow-Up Studies ; Fractures, Bone - prevention & control ; Humans ; LDL-Receptor Related Proteins - genetics ; Low Density Lipoprotein Receptor-Related Protein-5 ; Male ; Mutation ; Osteoporosis - complications ; Osteoporosis - genetics ; Pamidronate ; Pedigree ; Siblings ; Syndrome</subject><ispartof>Journal of Pediatric Endocrinology and Metabolism, 2008-08, Vol.21 (8), p.811-818</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c339t-5f64cf9631b2d8663dd6cc218ff0113012db3402a14563dc51a61ef50427be1f3</citedby><cites>FETCH-LOGICAL-c339t-5f64cf9631b2d8663dd6cc218ff0113012db3402a14563dc51a61ef50427be1f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18825883$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Barros, E.R.</creatorcontrib><creatorcontrib>Dias da Silva, M.R.</creatorcontrib><creatorcontrib>Kunii, I.S.</creatorcontrib><creatorcontrib>Lazaretti-Castro, M.</creatorcontrib><title>Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation</title><title>Journal of Pediatric Endocrinology and Metabolism</title><addtitle>J Pediatr Endocrinol Metab</addtitle><description>Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follow-up of two brothers with OPPG carrying a novel mutation in the LRP5 gene, who were treated with intravenous pamidronate.
We looked for a mutation in the LRP5 gene in two brothers (12 and 4 years old) with clinical features of OPPG (blindness, low BMD and fragility fractures) and in their consanguineous parents to confirm the diagnosis of OPPG. The patients were treated with bisphosphonate for 3 years. They received 1 mg/kg/day of pamidronate for 2 consecutive days, every 3 months during the first year, and every 4 months in subsequent years. Calcium, phosphorus, total alkaline phosphatase, parathyroid hormone, hepatic transaminases, creatinine and hemogram tests were performed before each infusion. Bone densitometry was performed at baseline and at the end of the follow-up.
The affected brothers carry a missense mutation in the third codon of exon 8 (AAT-->ATT) that led to the exchange of an asparagine for an isoleucine (N531I). Both parents were found to be heterozygous for this mutation. The intravenous pamidronate therapy was safe for up to 3 years of use. Moreover, increased BMD and decreased fracture rate were observed in our patients with OPPG.</description><subject>Antineoplastic Agents - therapeutic use</subject><subject>Blindness - complications</subject><subject>Blindness - congenital</subject><subject>Blindness - genetics</subject><subject>Bone Density - drug effects</subject><subject>Bone Density Conservation Agents - therapeutic use</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Consanguinity</subject><subject>Diphosphonates - therapeutic use</subject><subject>Follow-Up Studies</subject><subject>Fractures, Bone - prevention & control</subject><subject>Humans</subject><subject>LDL-Receptor Related Proteins - genetics</subject><subject>Low Density Lipoprotein Receptor-Related Protein-5</subject><subject>Male</subject><subject>Mutation</subject><subject>Osteoporosis - complications</subject><subject>Osteoporosis - genetics</subject><subject>Pamidronate</subject><subject>Pedigree</subject><subject>Siblings</subject><subject>Syndrome</subject><issn>0334-018X</issn><issn>2191-0251</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkM2O0zAURi0EYqphXoAF8goxiwRfO3bdJVTzq46agSABG8tN7KkhiYOdqPQBeG9ctYLVle493yfdg9BrIDlw4O_vy6uHnBIicwq5zCXAMzSjsICMUA7P0YwwVmQE5NczdBHjD0IIEGDA2Ut0BlJSLiWboT_VNhiDvxkdIr72bet32TRgb3GpO9cE3-vR4Gprgh722PW42nn8MfgxbSLeuXGL13E0fvDBRxezMpqp8U-t853Gn_d9augMfrcuy5tLvNQh7F3_hHWPV59Kjh-mUY_O96_QC6vbaC5O8xx9ub6qlrfZan1zt_ywymrGFmPGrShquxAMNrSRQrCmEXVNQVpLABgB2mxYQaiGgqdjzUELMJaTgs43Biw7R2-PvUPwvyYTR9W5WJu21b3xU1RiIcicCpJAegTr9FYMxqohuE6HvQKiDv7Vwb86-FcUlFTJfwq9ObVPm840_yMn2wnIjoBLyn7_u-vwU4k5m3P1WBWKVY8VYbffVcn-App6kGM</recordid><startdate>20080801</startdate><enddate>20080801</enddate><creator>Barros, E.R.</creator><creator>Dias da Silva, M.R.</creator><creator>Kunii, I.S.</creator><creator>Lazaretti-Castro, M.</creator><general>De Gruyter</general><scope>BSCLL</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>7X8</scope></search><sort><creationdate>20080801</creationdate><title>Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation</title><author>Barros, E.R. ; Dias da Silva, M.R. ; Kunii, I.S. ; Lazaretti-Castro, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c339t-5f64cf9631b2d8663dd6cc218ff0113012db3402a14563dc51a61ef50427be1f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Antineoplastic Agents - therapeutic use</topic><topic>Blindness - complications</topic><topic>Blindness - congenital</topic><topic>Blindness - genetics</topic><topic>Bone Density - drug effects</topic><topic>Bone Density Conservation Agents - therapeutic use</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Consanguinity</topic><topic>Diphosphonates - therapeutic use</topic><topic>Follow-Up Studies</topic><topic>Fractures, Bone - prevention & control</topic><topic>Humans</topic><topic>LDL-Receptor Related Proteins - genetics</topic><topic>Low Density Lipoprotein Receptor-Related Protein-5</topic><topic>Male</topic><topic>Mutation</topic><topic>Osteoporosis - complications</topic><topic>Osteoporosis - genetics</topic><topic>Pamidronate</topic><topic>Pedigree</topic><topic>Siblings</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Barros, E.R.</creatorcontrib><creatorcontrib>Dias da Silva, M.R.</creatorcontrib><creatorcontrib>Kunii, I.S.</creatorcontrib><creatorcontrib>Lazaretti-Castro, M.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Barros, E.R.</au><au>Dias da Silva, M.R.</au><au>Kunii, I.S.</au><au>Lazaretti-Castro, M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation</atitle><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle><addtitle>J Pediatr Endocrinol Metab</addtitle><date>2008-08-01</date><risdate>2008</risdate><volume>21</volume><issue>8</issue><spage>811</spage><epage>818</epage><pages>811-818</pages><issn>0334-018X</issn><eissn>2191-0251</eissn><abstract>Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follow-up of two brothers with OPPG carrying a novel mutation in the LRP5 gene, who were treated with intravenous pamidronate.
We looked for a mutation in the LRP5 gene in two brothers (12 and 4 years old) with clinical features of OPPG (blindness, low BMD and fragility fractures) and in their consanguineous parents to confirm the diagnosis of OPPG. The patients were treated with bisphosphonate for 3 years. They received 1 mg/kg/day of pamidronate for 2 consecutive days, every 3 months during the first year, and every 4 months in subsequent years. Calcium, phosphorus, total alkaline phosphatase, parathyroid hormone, hepatic transaminases, creatinine and hemogram tests were performed before each infusion. Bone densitometry was performed at baseline and at the end of the follow-up.
The affected brothers carry a missense mutation in the third codon of exon 8 (AAT-->ATT) that led to the exchange of an asparagine for an isoleucine (N531I). Both parents were found to be heterozygous for this mutation. The intravenous pamidronate therapy was safe for up to 3 years of use. Moreover, increased BMD and decreased fracture rate were observed in our patients with OPPG.</abstract><cop>Germany</cop><pub>De Gruyter</pub><pmid>18825883</pmid><doi>10.1515/JPEM.2008.21.8.811</doi><tpages>8</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0334-018X |
ispartof | Journal of Pediatric Endocrinology and Metabolism, 2008-08, Vol.21 (8), p.811-818 |
issn | 0334-018X 2191-0251 |
language | eng |
recordid | cdi_proquest_miscellaneous_69607260 |
source | MEDLINE; De Gruyter journals |
subjects | Antineoplastic Agents - therapeutic use Blindness - complications Blindness - congenital Blindness - genetics Bone Density - drug effects Bone Density Conservation Agents - therapeutic use Child Child, Preschool Consanguinity Diphosphonates - therapeutic use Follow-Up Studies Fractures, Bone - prevention & control Humans LDL-Receptor Related Proteins - genetics Low Density Lipoprotein Receptor-Related Protein-5 Male Mutation Osteoporosis - complications Osteoporosis - genetics Pamidronate Pedigree Siblings Syndrome |
title | Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-11T19%3A13%3A47IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Three%20Years%20Follow-up%20of%20Pamidronate%20Therapy%20in%20Two%20Brothers%20with%20Osteoporosis-Pseudoglioma%20Syndrome%20(OPPG)%20Carrying%20an%20LRP5%20Mutation&rft.jtitle=Journal%20of%20Pediatric%20Endocrinology%20and%20Metabolism&rft.au=Barros,%20E.R.&rft.date=2008-08-01&rft.volume=21&rft.issue=8&rft.spage=811&rft.epage=818&rft.pages=811-818&rft.issn=0334-018X&rft.eissn=2191-0251&rft_id=info:doi/10.1515/JPEM.2008.21.8.811&rft_dat=%3Cproquest_cross%3E69607260%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=69607260&rft_id=info:pmid/18825883&rfr_iscdi=true |