守護新生兒健康 大林慈濟獲「先天性甲狀腺低能症」「蠶豆症」確認診斷醫院
2022-08-22 記者陳宜琳/嘉義報導
大林慈濟醫院通過衛福部評核，獲得「天性甲狀腺低能症」及「葡萄糖-6-磷酸鹽去氫酶缺乏症(蠶豆症)」確認診斷醫院（圖：大林慈濟醫院提供）
歡喜迎接新生命的到來，期盼寶貝能健康平安長大是爸媽最大心願，但有些寶寶可能一出生就患有先天性代謝異常，像是蠶豆症、先天性甲狀腺低能症等，這些疾病就必須在新生兒篩檢時做鑑別診斷，及早治療。大林慈濟醫院近日通過衛福部評核，獲得「先天性甲狀腺低能症」及「葡萄糖-6-磷酸鹽去氫酶缺乏症(蠶豆症)」確認診斷醫院，從源頭守護寶寶健康。
小兒部遺傳暨新陳代謝科歐宗穎醫師說，目前台灣新生兒蠶豆症的篩檢率已經達到100％，每一百名新生兒約有2至3名患有蠶豆症，其中90％以上由父母遺傳，少數人是自體基因發生變化而罹患。由於蠶豆症不容易發覺，除非G-6-PD缺乏程度嚴重，因此新生兒作G-6-PD檢驗，可以讓患有此症的父母能及早得知，讓孩子遠離治病源，對孩子的成長健康相當重要。
先天性甲狀腺低能症在新生兒的發生率約為1/3000至4000，是世界各國新生兒常見的一種內分泌代謝異常疾病，造成的原因包括甲狀腺生長發育不良、甲狀腺合成甲狀腺素的功能異常、暫時性甲狀腺低能症等。當發現幼兒有持續性黃疸、表情痴呆、哭聲沙啞、皮膚毛髮乾燥、臍疝氣、腹脹、便秘、呼吸及餵食困難、生長發育遲緩，若未能及時治療，日後將有身材矮小及智能障礙等症狀。
歐宗穎醫師表示，新生兒篩檢目的是在嬰兒出生後，早期進行檢測，早期發現患有先天性代謝異常疾病的孩子，給予妥善的治療，減少疾病造成身體或智能上的損害。當篩檢發現有異常時，二週內就要趕快做確認診斷及後續治療。
大林慈濟醫院以專業的醫療團隊，包括小兒科、影像醫學科、檢驗科、身心科、臨床心理中心等，及兒科個案管理師，在通過衛福部書面與實地訪查評核通過，讓在地鄉親不用再奔波至外縣市才能做確認診斷，免於舟車勞頓之苦。歐宗穎提醒，大部分的先天性代謝異常疾病只要及早診斷，經由飲食控制與藥物輔助治療，對預後都有很大的幫助。
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