先天性高胱胺酸尿症患者接受眼科手術全身麻醉之病例報告

General Anesthesia for Patient with Homocystinuria-- A Case Report

高胱胺酸尿症是最常見的先天代謝性疾病之一，合併多種臨床症狀，以及許多嚴重的併發症，包括高度近視、雙眼水晶體脫位、脊柱側彎、智力缺損、和血管栓塞，文獻中報導此症有很高的心血管疾病發生率和手術麻醉後的併發症。由於新生兒篩檢的普及，早期發現此種疾病，可用長期服藥和飲食限制得到較好的控制，存活時間增長。本文報告一位15歲先天性高胱胺酸尿症的病人，接受水晶體摘除和人工水晶體植入的手術，在全身麻醉下順利完成手術，沒有任何後遺症。對於此類平時控制較好的病人，手術前後特別的處理，可以有效地降低併發症發生率。

Homocystinuria is an autosomal recessive disease with multiple systemic disorders. Here we report a 15-year-old lad suffering from homocystinuria who required an ocular surgery including lentectomy and implant of plastic lens, OS and anterior retinal cryotherapy, OD under general anesthesia because of lens subluxation and lattice degeneration. It is the elective ocular procedure most commonly performed for homocystinuric children. Proper precautions should be taken during anesthetic management since this condition inspires some particular anesthetic complications that could be prevented by careful consideration and understanding of its pathophysiology. Providentially our patient stood the operation well and was discharged without subsequent thromboembolism or other complication as an aftermath.