Management of Acute Decompensation of Neonatal Maple Syrup Urine Disease with Continuous Arteriovenous Haemofiltration: Report of One Case

一個22天大女嬰因特殊尿味及疑似先天代謝異常轉診至本院。理學檢查顯示一個呆滯及低肌張力之嬰孩。住院後，因高度懷疑楓糖漿尿症，于是首先給予靜脉注射維他命B1，高葡萄糖及適量之蛋白質。楓糖漿尿症經由血中氨基酸及尿中有機酸分析被證實。但是神經功能持續惡化。於是採用連續性動靜脈血液過濾術(CAVHF)。神經功能於CAVHF後呈現戲劇性之進步。血中白胺酸、异白胺酸、纈胺酸之濃度亦同時降低。連續性動靜脈血液過濾術(CAVHF)于新生兒楓糖漿尿症之急性失衡是一項可行的治療且有較高的效率。進一步有關于使用時機，治療時間長短，以及幷發症之避免是需要進一步探討觀察的。

關鍵字

楓糖漿尿症；急性治療；持續性動靜脈血液過濾術

並列摘要

A 22-day-old female infant was referred to our hospital due to unusual urine odor suspecting inborn error of metabolism. Physical examination revealed a stuporous and hypotonic infant with poor reflexes. Intravenous thiamine and high glucose along with appropriate protein were given under the suspicion of maple syrup urine disease (MSUD), which was confirmed by blood and cerebrospinal fluid amino acid assays, and urinary organic acid assay. Progressive neurological deterioration was observed despite the non-invasive treatment. So, we performed pump assisted continuous arteriovenous haemofiltration (CAVHF). Dramatic improvement in neurological function was observed hours after initiation of CAVHF, along with decrease in the level of isoleucine, leucine and valine. In our experience, CAVHF is a well-tolerated procedure for managing the acute phase of neonatal MSUD. Further study on indications, duration of treatment, and preventing complications is needed.

並列關鍵字

Maple syrup urine disease ； acute management ； haemofiltration

國際替代計量

Management of Acute Decompensation of Neonatal Maple Syrup Urine Disease with Continuous Arteriovenous Haemofiltration: Report of One Case

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