{"title":"同时发生选择性ACTH不敏感、失弛缓症和血氧症伴高脂血症。","authors":"A Várkonyi, J Julesz, P Szüts, I Tóth, I Faredin","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>An extremely rare clinical syndrome on a 7-year-old-girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrima disturbance of the lipid metabolism was also detected--being a special feature of this case. The details of the endocrine workup is discussed, providing clues for the possible pathomechanism. The correct diagnosis and specific therapy is of utmost importance in the everyday life of the patient.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"32 1","pages":"31-42"},"PeriodicalIF":0.0000,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Simultaneous occurrence of selective ACTH insensitivity, achalasia and alacrimia accompanied by hyperlipoproteinaemia.\",\"authors\":\"A Várkonyi, J Julesz, P Szüts, I Tóth, I Faredin\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>An extremely rare clinical syndrome on a 7-year-old-girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrima disturbance of the lipid metabolism was also detected--being a special feature of this case. The details of the endocrine workup is discussed, providing clues for the possible pathomechanism. The correct diagnosis and specific therapy is of utmost importance in the everyday life of the patient.</p>\",\"PeriodicalId\":76974,\"journal\":{\"name\":\"Acta paediatrica Hungarica\",\"volume\":\"32 1\",\"pages\":\"31-42\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1992-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta paediatrica Hungarica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta paediatrica Hungarica","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Simultaneous occurrence of selective ACTH insensitivity, achalasia and alacrimia accompanied by hyperlipoproteinaemia.
An extremely rare clinical syndrome on a 7-year-old-girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrima disturbance of the lipid metabolism was also detected--being a special feature of this case. The details of the endocrine workup is discussed, providing clues for the possible pathomechanism. The correct diagnosis and specific therapy is of utmost importance in the everyday life of the patient.
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