低钙症的罕见病因:甲状旁腺功能减退症、感音神经性耳聋和肾脏疾病综合征

S. Benamer, P. Jennings
{"title":"低钙症的罕见病因:甲状旁腺功能减退症、感音神经性耳聋和肾脏疾病综合征","authors":"S. Benamer, P. Jennings","doi":"10.4103/ljms.ljms_81_20","DOIUrl":null,"url":null,"abstract":"Hypocalcemia is a common electrolyte disturbance with a variety of causes. Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome is a rare autosomal-dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease. This is a case presentation of HDR syndrome that had been referred to a hospital with hypocalcemia. This case has a unique feature as it has been diagnosed in adult age because usually HDR syndrome is diagnosed in pediatric age group.","PeriodicalId":18055,"journal":{"name":"Libyan Journal of Medical Sciences","volume":"34 1","pages":"196 - 197"},"PeriodicalIF":0.0000,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A rare cause of hypocalcemia: Hypoparathyroidism, sensorineural deafness, and renal disease syndrome\",\"authors\":\"S. Benamer, P. Jennings\",\"doi\":\"10.4103/ljms.ljms_81_20\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hypocalcemia is a common electrolyte disturbance with a variety of causes. Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome is a rare autosomal-dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease. This is a case presentation of HDR syndrome that had been referred to a hospital with hypocalcemia. This case has a unique feature as it has been diagnosed in adult age because usually HDR syndrome is diagnosed in pediatric age group.\",\"PeriodicalId\":18055,\"journal\":{\"name\":\"Libyan Journal of Medical Sciences\",\"volume\":\"34 1\",\"pages\":\"196 - 197\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Libyan Journal of Medical Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/ljms.ljms_81_20\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Libyan Journal of Medical Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/ljms.ljms_81_20","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

低钙血症是一种常见的电解质紊乱,有多种原因。甲状旁腺功能减退、感音神经性耳聋和肾脏疾病(HDR)综合征是一种罕见的常染色体显性遗传病,以甲状旁腺功能减退、感音神经性耳聋和肾脏疾病为特征。这是一个HDR综合征的病例,因低钙血症被转诊到医院。由于HDR综合征通常在儿童年龄组被诊断,本病例的独特之处在于它已被诊断为成人。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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
A rare cause of hypocalcemia: Hypoparathyroidism, sensorineural deafness, and renal disease syndrome
Hypocalcemia is a common electrolyte disturbance with a variety of causes. Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome is a rare autosomal-dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease. This is a case presentation of HDR syndrome that had been referred to a hospital with hypocalcemia. This case has a unique feature as it has been diagnosed in adult age because usually HDR syndrome is diagnosed in pediatric age group.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Evaluating quality of anticoagulation management among antiphospholipid syndrome patients: An observational cohort study Effectiveness and safety of direct-acting antiviral in hemodialysis patients with chronic hepatitis C: A real clinical experience Clinical venous thromboembolism in spinal trauma with and without spinal cord injury: A 3-year experience of midlands centre for spinal injuries, Oswestry, UK The incidence and risk factors for barotrauma in COVID-19 in intensive care unit, a single-center retrospective study Anabolic androgenic steroids-induced acute “Tombstone” ST-segment elevation myocardial infarction
×
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