{"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}
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.