Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report.

IF 2 4区 医学 Q2 PEDIATRICS Children-Basel Pub Date : 2024-09-27 DOI:10.3390/children11101176
Masato Tanaka, Akira Kobayashi, Haruhiro Kuwabara, Jun Nirei, Junichi Ozawa, Kentaro Sawano, Nao Shibata, Keisuke Nagasaki, Akihiko Saitoh
{"title":"Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report.","authors":"Masato Tanaka, Akira Kobayashi, Haruhiro Kuwabara, Jun Nirei, Junichi Ozawa, Kentaro Sawano, Nao Shibata, Keisuke Nagasaki, Akihiko Saitoh","doi":"10.3390/children11101176","DOIUrl":null,"url":null,"abstract":"<p><p>Generalized arterial calcification of infancy (GACI) is a rare disease characterized by arterial calcification. GACI is caused by a mutation in the ENPP1 or ABCC6 genes. GACI causes severe hypertension and heart failure, and approximately 50% of patients die within the first 6 months. In particular, preterm infants with GACI often die due to immature cardiac function. Bisphosphonates are effective in treating GACI; however, no standardized treatment regimen is available. We experienced a case of a preterm infant with GACI born at 30 weeks gestation. Ultrasonography showed high-intensity lesions in the arteries, and computed tomography revealed calcification of the arteries throughout the body, leading to the diagnosis of GACI. We administered intravenous pamidronate, and her cardiac contraction improved. The initial scheduled interval between drug administrations was 2 months. However, the cardiac contraction worsened 1 month after the pamidronate administration. Therefore, we decreased the dosing interval and administered a second course of pamidronate, which improved her cardiac function. We then switched to oral etidronate. To improve the morbidity and mortality rates of preterm infants with GACI, it is important to obtain an early diagnosis of GACI by investigating high-intensity lesions in the arteries and performing early administration of an appropriate type of bisphosphonate.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505654/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Children-Basel","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/children11101176","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

Abstract

Generalized arterial calcification of infancy (GACI) is a rare disease characterized by arterial calcification. GACI is caused by a mutation in the ENPP1 or ABCC6 genes. GACI causes severe hypertension and heart failure, and approximately 50% of patients die within the first 6 months. In particular, preterm infants with GACI often die due to immature cardiac function. Bisphosphonates are effective in treating GACI; however, no standardized treatment regimen is available. We experienced a case of a preterm infant with GACI born at 30 weeks gestation. Ultrasonography showed high-intensity lesions in the arteries, and computed tomography revealed calcification of the arteries throughout the body, leading to the diagnosis of GACI. We administered intravenous pamidronate, and her cardiac contraction improved. The initial scheduled interval between drug administrations was 2 months. However, the cardiac contraction worsened 1 month after the pamidronate administration. Therefore, we decreased the dosing interval and administered a second course of pamidronate, which improved her cardiac function. We then switched to oral etidronate. To improve the morbidity and mortality rates of preterm infants with GACI, it is important to obtain an early diagnosis of GACI by investigating high-intensity lesions in the arteries and performing early administration of an appropriate type of bisphosphonate.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
患有全身动脉钙化的早产儿因早期诊断和适当的双膦酸盐治疗而存活下来:病例报告。
婴儿全身动脉钙化症(GACI)是一种以动脉钙化为特征的罕见疾病。GACI 由 ENPP1 或 ABCC6 基因突变引起。GACI 会导致严重的高血压和心力衰竭,大约 50% 的患者会在最初 6 个月内死亡。特别是,患有 GACI 的早产儿往往因心脏功能不成熟而死亡。双膦酸盐可有效治疗 GACI,但目前尚无标准化的治疗方案。我们接诊了一例妊娠 30 周的早产儿,患有 GACI。超声波检查显示动脉有高强度病变,计算机断层扫描显示全身动脉钙化,从而确诊为 GACI。我们为她静脉注射了帕米膦酸钠,她的心脏收缩情况有所改善。最初计划的用药间隔为 2 个月。然而,在服用帕米膦酸钠 1 个月后,她的心脏收缩情况恶化。因此,我们缩短了给药间隔,并服用了第二个疗程的帕米膦酸钠,这改善了她的心功能。随后,我们改用口服依替膦酸钠。为了改善患有 GACI 的早产儿的发病率和死亡率,通过检查动脉的高强度病变并及早使用适当类型的双膦酸盐来获得 GACI 的早期诊断非常重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Children-Basel
Children-Basel PEDIATRICS-
CiteScore
2.70
自引率
16.70%
发文量
1735
审稿时长
6 weeks
期刊介绍: Children is an international, open access journal dedicated to a streamlined, yet scientifically rigorous, dissemination of peer-reviewed science related to childhood health and disease in developed and developing countries. The publication focuses on sharing clinical, epidemiological and translational science relevant to children’s health. Moreover, the primary goals of the publication are to highlight under‑represented pediatric disciplines, to emphasize interdisciplinary research and to disseminate advances in knowledge in global child health. In addition to original research, the journal publishes expert editorials and commentaries, clinical case reports, and insightful communications reflecting the latest developments in pediatric medicine. By publishing meritorious articles as soon as the editorial review process is completed, rather than at predefined intervals, Children also permits rapid open access sharing of new information, allowing us to reach the broadest audience in the most expedient fashion.
期刊最新文献
Decoding Apelin: Its Role in Metabolic Programming, Fetal Growth, and Gestational Complications. Development and Validation of a Diagnostic Algorithm for Down Syndrome Using Birth Certificate and International Classification of Diseases Codes. Parenting in the Face of Trauma: Music Therapy to Support Parent-Child Dyads Affected by War and Displacement. Conducting Patient-Oriented Research in Pediatric Populations: A Narrative Review. Digital Narratives: The Impact of Instagram® on Mothers of Children with Congenital Toxoplasmosis.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1