André Coelho Almeida, Mariana Bastos Gomes, Sofia A Martins, Olinda P Marques, Maria Miguel Gomes, Ana M Antunes
{"title":"A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution.","authors":"André Coelho Almeida, Mariana Bastos Gomes, Sofia A Martins, Olinda P Marques, Maria Miguel Gomes, Ana M Antunes","doi":"10.1515/jpem-2022-0201","DOIUrl":null,"url":null,"abstract":"<p><p>Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1448-1452"},"PeriodicalIF":1.0000,"publicationDate":"2022-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric endocrinology & metabolism : JPEM","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1515/jpem-2022-0201","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/11/25 0:00:00","PubModel":"Print","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases.
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