家族性肾小管性酸中毒:一家族二例报告

Alina Naeem, M. Kiblawi, Subhranshu Sekhar Kar, E. Ahmed, S. Mossad, B. Manjunatha Goud
{"title":"家族性肾小管性酸中毒:一家族二例报告","authors":"Alina Naeem, M. Kiblawi, Subhranshu Sekhar Kar, E. Ahmed, S. Mossad, B. Manjunatha Goud","doi":"10.4103/0331-3131.163334","DOIUrl":null,"url":null,"abstract":"Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, as a result of which the person′s blood remains very acidic. Without proper treatment, chronic acidity of the blood leads to chronic kidney disease, kidney stones, metabolic bone disease, and growth failure. These are relatively rare inherited renal tubular disorders. We report two cases from a single family with distal RTA (dRTA) or Type 1 RTA presenting with varied clinical manifestations. Sensorineural deafness, which is rarely associated with dRTA, was present in the elder sibling.","PeriodicalId":331118,"journal":{"name":"Annals of Nigerian Medicine","volume":"11 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Familial renal tubular acidosis: Report of two cases from a single family\",\"authors\":\"Alina Naeem, M. Kiblawi, Subhranshu Sekhar Kar, E. Ahmed, S. Mossad, B. Manjunatha Goud\",\"doi\":\"10.4103/0331-3131.163334\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, as a result of which the person′s blood remains very acidic. Without proper treatment, chronic acidity of the blood leads to chronic kidney disease, kidney stones, metabolic bone disease, and growth failure. These are relatively rare inherited renal tubular disorders. We report two cases from a single family with distal RTA (dRTA) or Type 1 RTA presenting with varied clinical manifestations. Sensorineural deafness, which is rarely associated with dRTA, was present in the elder sibling.\",\"PeriodicalId\":331118,\"journal\":{\"name\":\"Annals of Nigerian Medicine\",\"volume\":\"11 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Nigerian Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/0331-3131.163334\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Nigerian Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/0331-3131.163334","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2

摘要

肾小管酸中毒(RTA)是一种肾脏不能将酸排泄到尿液中的疾病,其结果是人的血液仍然呈酸性。如果没有适当的治疗,慢性血液酸性会导致慢性肾脏疾病、肾结石、代谢性骨病和生长衰竭。这些是相对罕见的遗传性肾小管疾病。我们报告两例来自同一家族的远端RTA (dRTA)或1型RTA,其临床表现各不相同。感觉神经性耳聋,很少与dRTA相关,出现在哥哥姐妹中。
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
Familial renal tubular acidosis: Report of two cases from a single family
Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, as a result of which the person′s blood remains very acidic. Without proper treatment, chronic acidity of the blood leads to chronic kidney disease, kidney stones, metabolic bone disease, and growth failure. These are relatively rare inherited renal tubular disorders. We report two cases from a single family with distal RTA (dRTA) or Type 1 RTA presenting with varied clinical manifestations. Sensorineural deafness, which is rarely associated with dRTA, was present in the elder sibling.
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
Seroprevalence of hepatitis B virus among antenatal attendees at the University of Abuja Teaching Hospital, Nigeria Mental health disorders in Nigeria: A highly neglected disease Blood transfusion malaria: A literature review 68Gallium-DOTANOC positron emission tomography/computed tomography scintigraphy for an unusual case of malignant pheochromocytoma: Findings and review of literature Identification of a surrogate anthropometric measurement to birth weight in high-risk low birth weight newborns in a developing country
×
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