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題 名 | 高危險妊娠孕婦之遺傳諮詢經驗--先天性腎上腺增生症案例=Genetic Counseling for High-Risk Pergnancy Associated with Congenital Adrenal Hyperplasia--A Case Report |
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作 者 | 張文薰; | 書刊名 | 榮總護理 |
卷 期 | 15:4 1998.12[民87.12] |
頁 次 | 頁409-418 |
分類號 | 419.74 |
關鍵詞 | 高危險妊娠; 遺傳諮詢; 先天性腎上腺增先症; High-risk pregnancy; Genetic counseling; Congenital adrenal hyperplasia; |
語 文 | 中文(Chinese) |
中文摘要 | 先天性腎上腺增生症( CAH )是一種體染色體隱性遺傳疾病,帶因的夫妻會有四 分之一機率生下一個患 CAH 的小孩。若 CAH 患者在新生兒期未能及時的發現且確定診斷, 則可能會不明原因的死亡,造成夫妻心中永遠的傷痛。 本個案及其夫均是 CAH 的帶因者, 所生大女兒為 CAH 的患者;二女兒為 CAH 帶因者。收案時個案懷第三胎,筆者針對個案全 家執行遺傳諮詢, 經由諮詢發現:個案因過去曾生育過 CAH 的小孩而害怕此胎懷孕的未知 性, 個案對 CAH 的遺傳型式、再發率、預防方法及調藥原則知識不足,個案在照顧小孩方 面家庭因應能力失調等護理問題。 護理人員於諮詢中提供個案全家有關 CAH 的臨床表徵、 病因、再發率、產前診斷、 治療與處理及心理支持是非常重要的。 同時對於個案大女兒患 CAH 導循醫囑按時服藥及定期回院追蹤治療, 提供相關訊息,以期望將來在 CAH 的治療上 能有更大的突破。 |
英文摘要 | This case report is based on a nursing experience involving genetic counseling for high-risk pregnancies. Various genetic diseases are known to affect mankind; they are predominately divided into two groups: autosomal dominant and autosomal recessive. Autosomal dominant diseases are more serious and more easily detected whereas autosomal recessive disorders may derive from a normal-looking set of parents but yield a genetic-defi-cient child. Treatment and cure for these genetic disorders are limited. Congenital Adrenal Hyperplsia is an autosomal recessive disease where there is a 1 in 4 chances that each offspring will be affected. Early diagnosis of neonates with Congenital Adrenal Hyperplasia is vital; otherwise, fetal death may occur, resulting in everlasting grief for the parents. The family tree of this case report involves a father and a mother who are carriers of CAH, the oldest daughter who is a patient of CAH and the second daughter who is a carrier of CAH. Presently, the mother is pregnant with their third child and through genetic and nursing counseling, we have discovered that due to past experiences, she is worried about the future of their unborn child, the presentation, the incidence rate, the prevention and methods of medication for CAH, and the care for the affected child and its effects on the family. Through counseling, our nursing staff was able to explain to the family the clinical presentation, etiology, incidence rate, prenatal diagnosis, prevention and treatment, and psychological support needed for patients with Congenital Adrenal Hyperplasia. At the same time, we gave information on the methods of giving medication and the need for regular follow-up of her eldest daughter, who was a victim of CAH, in order to have a more successful treatment. |
本系統中英文摘要資訊取自各篇刊載內容。