Tobias J D
Division of Pediatric Anesthesiology/Critical Care Medicine, Vanderbilt University, Nashville, Tennessee 37232.
Can J Anaesth. 1993 Jun;40(6):518-20. doi: 10.1007/BF03009734.
The author presents and discusses the anaesthetic care of a 12-yr-old boy with cystinosis. Cystinosis is a recessively inherited disorder of amino acid metabolism resulting in the abnormal intracellular accumulation of cystine. Anaesthetic care may be affected by variable end-organ involvement, most notably progressive renal deterioration beginning with the development of Fanconi syndrome and progressing to overt renal failure during the first decade of life. Additional organ system involvement may lead to cirrhosis with portal hypertension, diabetes mellitus, and hypothyroidism. Identification of the extent of end-organ involvement during the preoperative evaluation will help in the provision of safe anaesthetic care for such patients.
作者介绍并讨论了一名患有胱氨酸病的12岁男孩的麻醉护理情况。胱氨酸病是一种隐性遗传的氨基酸代谢紊乱疾病，会导致细胞内胱氨酸异常蓄积。麻醉护理可能会受到不同终末器官受累情况的影响，最显著的是进行性肾脏恶化，始于范科尼综合征的发展，并在生命的第一个十年内进展为明显的肾衰竭。其他器官系统受累可能导致肝硬化伴门静脉高压、糖尿病和甲状腺功能减退。在术前评估中确定终末器官受累的程度将有助于为这类患者提供安全的麻醉护理。
