{"title":"肾性假性醛固酮增多症1型——包括一种新的基因变异的成人病例系列。","authors":"Jan Calissendorff, Henrik Falhammar","doi":"10.1007/s12020-024-04120-8","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Renal pseudohypoaldosteronism type 1 (PHA1) is a rare disease affecting infants. Symptoms are failure to thrive, vomiting, and weight loss. It is caused by gene variants in NR3C2 by which the mineralocorticoid receptor is dysfunctional, and patients develop hyponatremia, elevated plasma aldosterone, and renin but have normal blood pressure. Little is known about PHA1 in adults. We present four adults with PHA1, their clinical, biochemistry, and genetic data.</p><p><strong>Methods: </strong>Clinical and biochemical data were collected from the medical files and clinical examination of the participants. Genetic testing was performed.</p><p><strong>Results: </strong>Two adult dizygotic twins and their mother, as well as an adult man were included. One of the sisters and the man had had severe hyponatremia and been admitted several times as young infants, treated with sodium chloride and fludrocortisone. All had as adults elevated plasma aldosterone and normal sodium. The females now had normal plasma renin, but it was increased in the male. A novel genetic variant in NR3C2 was found in the twins and their mother (c.1816T>C, p.(Cys606Arg)). All had normal blood pressure and were asymptomatic.</p><p><strong>Conclusion: </strong>In adulthood, PHA1 seems to be asymptomatic and long-term consequences favorable.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1285-1290"},"PeriodicalIF":3.0000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.\",\"authors\":\"Jan Calissendorff, Henrik Falhammar\",\"doi\":\"10.1007/s12020-024-04120-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Renal pseudohypoaldosteronism type 1 (PHA1) is a rare disease affecting infants. Symptoms are failure to thrive, vomiting, and weight loss. It is caused by gene variants in NR3C2 by which the mineralocorticoid receptor is dysfunctional, and patients develop hyponatremia, elevated plasma aldosterone, and renin but have normal blood pressure. Little is known about PHA1 in adults. We present four adults with PHA1, their clinical, biochemistry, and genetic data.</p><p><strong>Methods: </strong>Clinical and biochemical data were collected from the medical files and clinical examination of the participants. Genetic testing was performed.</p><p><strong>Results: </strong>Two adult dizygotic twins and their mother, as well as an adult man were included. One of the sisters and the man had had severe hyponatremia and been admitted several times as young infants, treated with sodium chloride and fludrocortisone. All had as adults elevated plasma aldosterone and normal sodium. The females now had normal plasma renin, but it was increased in the male. A novel genetic variant in NR3C2 was found in the twins and their mother (c.1816T>C, p.(Cys606Arg)). All had normal blood pressure and were asymptomatic.</p><p><strong>Conclusion: </strong>In adulthood, PHA1 seems to be asymptomatic and long-term consequences favorable.</p>\",\"PeriodicalId\":49211,\"journal\":{\"name\":\"Endocrine\",\"volume\":\" \",\"pages\":\"1285-1290\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Endocrine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12020-024-04120-8\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12020-024-04120-8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/29 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.
Purpose: Renal pseudohypoaldosteronism type 1 (PHA1) is a rare disease affecting infants. Symptoms are failure to thrive, vomiting, and weight loss. It is caused by gene variants in NR3C2 by which the mineralocorticoid receptor is dysfunctional, and patients develop hyponatremia, elevated plasma aldosterone, and renin but have normal blood pressure. Little is known about PHA1 in adults. We present four adults with PHA1, their clinical, biochemistry, and genetic data.
Methods: Clinical and biochemical data were collected from the medical files and clinical examination of the participants. Genetic testing was performed.
Results: Two adult dizygotic twins and their mother, as well as an adult man were included. One of the sisters and the man had had severe hyponatremia and been admitted several times as young infants, treated with sodium chloride and fludrocortisone. All had as adults elevated plasma aldosterone and normal sodium. The females now had normal plasma renin, but it was increased in the male. A novel genetic variant in NR3C2 was found in the twins and their mother (c.1816T>C, p.(Cys606Arg)). All had normal blood pressure and were asymptomatic.
Conclusion: In adulthood, PHA1 seems to be asymptomatic and long-term consequences favorable.
期刊介绍：
Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology.
Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted.
Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.
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