LorenaTrivilin Menezes, L. Pimentel, Lavinia Menezes, Diego Rosa, Maylon Ferreira
{"title":"巴特综合征是生长迟缓和感音神经性听力损失的原因","authors":"LorenaTrivilin Menezes, L. Pimentel, Lavinia Menezes, Diego Rosa, Maylon Ferreira","doi":"10.25060/residpediatr-2023.v13n1-469","DOIUrl":null,"url":null,"abstract":"Bartter syndrome (BS) is a rare renal tubulopathy, which typically becomes apparent during childhood. It is caused by an autosomal recessive inheritance which involves the kidneys’ ability to reabsorb sodium. This report depicts a case of an 18 month-old patient with several manifestations suggesting BS, such as hypokalemia, hypercalciuria, metabolic alkalosis, polyuria, polydipsia, growth delay and congenital bilateral sensorineural hearing loss. The diagnosis was confirmed after a genetic test by classifying the patient as type IV BS. In this context, knowing about BS is crucial to include it in the differential diagnosis of early onset tubulopathies. Therefore, the possible impacts of this condition can be minimized, leading to a better quality of life for the affected.","PeriodicalId":338092,"journal":{"name":"Residência Pediátrica","volume":"17 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Bartter syndrome as a cause of growth delay and sensorineural hearing loss\",\"authors\":\"LorenaTrivilin Menezes, L. Pimentel, Lavinia Menezes, Diego Rosa, Maylon Ferreira\",\"doi\":\"10.25060/residpediatr-2023.v13n1-469\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Bartter syndrome (BS) is a rare renal tubulopathy, which typically becomes apparent during childhood. It is caused by an autosomal recessive inheritance which involves the kidneys’ ability to reabsorb sodium. This report depicts a case of an 18 month-old patient with several manifestations suggesting BS, such as hypokalemia, hypercalciuria, metabolic alkalosis, polyuria, polydipsia, growth delay and congenital bilateral sensorineural hearing loss. The diagnosis was confirmed after a genetic test by classifying the patient as type IV BS. In this context, knowing about BS is crucial to include it in the differential diagnosis of early onset tubulopathies. Therefore, the possible impacts of this condition can be minimized, leading to a better quality of life for the affected.\",\"PeriodicalId\":338092,\"journal\":{\"name\":\"Residência Pediátrica\",\"volume\":\"17 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Residência Pediátrica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25060/residpediatr-2023.v13n1-469\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Residência Pediátrica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25060/residpediatr-2023.v13n1-469","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Bartter syndrome as a cause of growth delay and sensorineural hearing loss
Bartter syndrome (BS) is a rare renal tubulopathy, which typically becomes apparent during childhood. It is caused by an autosomal recessive inheritance which involves the kidneys’ ability to reabsorb sodium. This report depicts a case of an 18 month-old patient with several manifestations suggesting BS, such as hypokalemia, hypercalciuria, metabolic alkalosis, polyuria, polydipsia, growth delay and congenital bilateral sensorineural hearing loss. The diagnosis was confirmed after a genetic test by classifying the patient as type IV BS. In this context, knowing about BS is crucial to include it in the differential diagnosis of early onset tubulopathies. Therefore, the possible impacts of this condition can be minimized, leading to a better quality of life for the affected.