{"title":"新生儿表现为严重脱水:一例罕见的先天性肾上腺增生伴失盐危机。","authors":"Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka","doi":"10.31729/jnma.8777","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.</p>","PeriodicalId":520657,"journal":{"name":"JNMA; journal of the Nepal Medical Association","volume":"62 278","pages":"706-708"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619546/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Neonate Presenting with Severe Dehydration: A Rare Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis.\",\"authors\":\"Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka\",\"doi\":\"10.31729/jnma.8777\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.</p>\",\"PeriodicalId\":520657,\"journal\":{\"name\":\"JNMA; journal of the Nepal Medical Association\",\"volume\":\"62 278\",\"pages\":\"706-708\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619546/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JNMA; journal of the Nepal Medical Association\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31729/jnma.8777\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JNMA; journal of the Nepal Medical Association","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31729/jnma.8777","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/31 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
A Neonate Presenting with Severe Dehydration: A Rare Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis.
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.