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
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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