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| 題 名 | 失鈉型先天性腎上腺增殖症之臨床分析 |
|---|---|
| 作 者 | 陳銘華; 黃富源; | 書刊名 | 中華民國小兒科醫學會雜誌 |
| 卷 期 | 26:5 民74.09-10 |
| 頁 次 | 頁460-466 |
| 分類號 | 415.934 |
| 關鍵詞 | 分析; 失鈉型; 先天性; 腎上腺; 增殖症; 臨床; |
| 語 文 | 中文(Chinese) |
| 中文摘要 | 馬偕醫院小兒科自民國68年11月至73年12月5年間,共經歷了13例先天性腎上腺增殖症之病例。其中男性8例,女性5例。發現年齡由2天至3個月大不等。男性平均31天,女性平均37天大。此13例全部屬於失鈉型(salt-losing type),臨床症狀發生率,在男性依次為生長遲延(100%),皮膚色素沈着(87%),拒食(87%),脫水(87%),下痢(62%),嘔吐(50%),陰莖早熟(25%),及瀕臨休克狀態(12.5%);在女性則為半陰陽外生殖器(ambiguous genitalia) (100%),生長遲延(100%),皮膚色素沈着(100%),嘔吐(100%),拒食(100%),脫水(60%),下痢(40%)及瀕臨休克狀態(20%)。生化值檢查,13例中之11例發生明顯之高血鉀及低血鈉症,其餘2例雖無低血鈉症,但是住院期間,血鉀持續偏高。除了1例未收集到尿液外,其餘12例之尿液17-keto-steroid值由2.2至8.0mg/24hr不等,平均為4.7mg/24hr。有8例檢查了血清17-α-hydroxyprogesterone值,發現為7.78至186ng/ml,顯然比正常值為高。除了1例失去聯絡外,其餘12例給予藥物治療後,食慾,活動力,下痢,脫水均有顯著改善,至今全部存活。此症在女性病例,大都有半陰陽外生殖器,可供早期診斷之線索;但在男性病例則不然。當新生兒或嬰兒,有生長遲延、不明原因之下痢、拒食、脫水或皮膚較黑時,除了腸胃疾病外,不妨把失鈉型先天性腎上腺增殖症列入考慮。 |
| 英文摘要 | During the past five years, from Nov. 1979 to Dec. 1984, there were thirteen cases of salt-losing congenital adrenal hyperplasia admitted to the Department of Pediatrics, Mackay Memorial Hospital. The ages of these cases ranged from 2 days to 3 months. Eight cases were male, and five female. The main clinical features in the male patients were failure to thrive (100%), hyperpigmentation of the skin (87%), poor feeding (87%), dehydration (87%), diarrhea (62%), vomiting (50%), precosity of the penis (25%), and impending shock (12.5%). In female patients, the clinical pictures were ambiguous genitalia (100%), poor feeding (100%), dehydration (60%), diarrhea (40%), and impending shock (20%). Biochemically, significant hyperkalemia and hyponatremia were found in eleven cases, and hyperkalemia with normonatremia was noted in the remaining two cases. Urinary excretion of 17-ketosteroid was increased in twelve cases, and serum 17-hydroxyprogesterone levels were all increased in eight measured cases. The symptoms and signs were much improved in twelve cases after the treatment with Florinef and cortisone acetate. Ambiguous genitalia was noted in all female cases, which helped an early diagnosis of this disease. However, enlarged penis was found only in 25% of male patients. There were no specific signs in males for us to make early diagnosis. In conclusion, newborn presented with failure to thrive, intractable diarrhea, vomiting, poor feeding, dehydration with unknown origin or hyperpigmentation of the skin should be considered to have the possibility of salt-losing congenital adrenal hyperplasia. |
本系統中英文摘要資訊取自各篇刊載內容。