認識新生兒篩檢新增項目－－先天性腎上腺增生症

New Item of Newborn Screening – Congenital Adrenal Hyperplasia

先天性腎上腺增生症為體染色體隱性遺傳且具潛在威脅生命的疾病，患者於人生不同階段面臨不同的問題與危機，需要長期計畫管理，經由早期發現及早期治療將對個案的身心幫助極大。民國九十五年起政府補助之新生兒篩檢已新增此項目，然而國內護理相關資料極為少見。因此，筆者整理國內外近期相關文獻，包括先天性腎上腺增生症之生理機轉、臨床症狀、診斷與治療、各年齡階段之臨床表現與處置、護理照護以及相關研究，提供專業人員參考，作為未來協助及整合個案家庭醫療資源與長期照護計畫之參考。

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that results in abnormal biosynthesis of steroid hormone. It induces bio-psychological problems in each stage of patient’s lifespan; therefore, a longitudinal management plan is essential. Since July, 2006, CAH had been included into the items of newborn screening in Taiwan. Nurses should have the knowledge about CAH in order to offer more comprehensive nursing care, support, and information to patients and their families. This article reviews the relevant literature about the physiology, clinical symptoms, diagnosis, treatment, and management of CAH to serve as a practical reference for health professionals.