[{"data":1,"prerenderedAt":66},["ShallowReactive",2],{"q-nurse-107-1-maternal-pediatric-028":3},{"subject":4,"subjectSlug":5,"subjectFullName":4,"question":6,"related":35,"lastmod":65},"產兒科護理學","maternal-pediatric",{"id":7,"webId":8,"year":9,"session":10,"subject":4,"number":11,"stem":12,"options":13,"answer":18,"answerNote":19,"images":20,"explanation":21,"explanationDeep":22,"topics":23,"freq":26},"nurse-107-1-產兒科護理學-028","nurse-107-1-maternal-pediatric-028",107,1,28,"新生兒先天性代謝異常疾病中，下列何者不是屬於體染色體隱性遺傳疾病？",{"A":14,"B":15,"C":16,"D":17},"苯酮尿症","楓糖漿尿症","先天性甲狀腺功能低下症","先天性腎上腺增生症","C",null,[],"本題考點在新生兒先天代謝／內分泌異常的遺傳模式，找出非體染色體隱性遺傳者。依遺傳學分類，先天性甲狀腺功能低下症多為甲狀腺發育不良或異位、荷爾蒙合成缺陷等造成，絕大多數為偶發（非典型單基因隱性遺傳）而非體染色體隱性疾病，故選 C。A 苯酮尿症（PKU）為苯丙胺酸羥化酶缺乏，屬體染色體隱性遺傳。B 楓糖漿尿症（MSUD）為支鏈胺基酸代謝酶缺乏，屬體染色體隱性遺傳。D 先天性腎上腺增生症（CAH，多為 21-羥化酶缺乏）屬體染色體隱性遺傳。三者皆為酶缺乏型體隱性代謝病，唯先天性甲狀腺功能低下不屬此類。","台灣新生兒篩檢涵蓋項目多為體染色體隱性代謝病（PKU、MSUD、半乳糖血症、G6PD 缺乏症為 X 性聯、CAH 等），其共通點是『酶或蛋白缺乏』且父母多為帶因者。先天性甲狀腺功能低下（congenital hypothyroidism）雖也在新生兒篩檢之列，但病因以甲狀腺形態異常（發育不良、異位）為主，多屬偶發、非孟德爾單基因隱性遺傳，故為本題的『例外』。記憶：代謝酶缺乏＝多為體隱性；甲狀腺低下＝以腺體發育問題為主、偶發。可連結概念：體染色體隱性遺傳、新生兒篩檢、先天性甲狀腺低下病因、CAH\u002FPKU\u002FMSUD。",[24,27,30,33],{"term":25,"count":26},"新生兒篩檢",13,{"term":28,"count":29},"體染色體隱性遺傳",11,{"term":31,"count":32},"先天性甲狀腺功能低下",8,{"term":34,"count":10},"苯酮尿症與楓糖漿尿症",[36,40,45,50,55,60],{"webId":37,"stem":38,"number":39,"year":9,"session":10},"nurse-107-1-maternal-pediatric-029","謝女士懷孕 39 週，入院待產中，產程進度情形為：子宮頸擴張 8 cm，變薄 80%，高度為+2，已破水。胎兒監測器圖形顯示胎心率下降至 100 bpm，減速的時間與子宮收縮沒一定關係，下列何者為最有可能的情形？",29,{"webId":41,"stem":42,"number":43,"year":9,"session":44},"nurse-107-2-maternal-pediatric-045","為嬰幼兒進行胸腔物理治療的叩擊（percussion）時，下列何項步驟不適當？",45,2,{"webId":46,"stem":47,"number":48,"year":49,"session":10},"nurse-108-1-maternal-pediatric-059","小文，6 個月大，被診斷胃食道逆流（Gastroesophageal reflux），下列護理指導何者正確？",59,108,{"webId":51,"stem":52,"number":53,"year":54,"session":44},"nurse-109-2-maternal-pediatric-017","下列何者為子宮收縮頻率（frequency）的定義？",17,109,{"webId":56,"stem":57,"number":58,"year":59,"session":44},"nurse-110-2-maternal-pediatric-061","有關氣喘病童使用吸入型氣喘藥物，下列敘述何者錯誤？",61,110,{"webId":61,"stem":62,"number":63,"year":64,"session":10},"nurse-112-1-maternal-pediatric-015","陳女士因陣痛入院待產，目前子宮頸口開 2 公分，Oxytocin 使用，宮縮每 6～7 分鐘一次，每次 20～30 秒，宮縮壓力：40～50 mmHg。主訴陣痛厲害無法忍受，下列措施何者最適當？",15,112,"2026-09-04",1788510703519]