Gonzales M E
Oakwood Hospital Annapolis Center, Wayne, Mich., USA.
AANA J. 1999 Apr;67(2):145-51.
Alkaptonuria is a rare disease of phenylalanine, aromatic amino acids, and tyrosine metabolism. Because of a genetic deficiency of the enzyme homogentisic acid oxidase, an accumulation of homogentisic acid causes ochronotic pigment deposition. The most common clinical manifestations are arthropathy, urinary calculi and discoloration, cutaneous and cartilaginous pigmentation, and cardiac valvular disease. Arthropathy and aortic stenosis are the most debilitating manifestations of the disease. A case of alkaptonuric aortic stenosis is described. A 75-year-old woman with a history of alkaptonuria presented in the emergency department with complaints of progressive dyspnea. Upon examination, the patient was hypertensive, tachypneic, and tachycardic with premature ventricular contractions. She had pitting edema of the lower extremities and complaints of generalized weakness. Chest x-rays revealed congestive heart failure and pulmonary edema. Diuretics were administered, and a continuous nitroglycerin infusion was initiated in the emergency department. The patient was admitted for further evaluation. The patient's respiratory status continued to decline. She was intubated endotracheally 1 day after admission. Subsequent cardiac evaluation revealed an ejection fraction of 35%, severe aortic stenosis, mild coronary artery disease, ischemic cardiomyopathy, and anteroapical akinesis. A dobutamine infusion was instituted for persistent hypotension, and renal dose dopamine was initiated for oliguric renal failure. The patient underwent an emergency operation for an aortic valve replacement with a Dacron patch 10 days after admission. Cardiopulmonary bypass and mild hypothermia were used during the procedure. The patient's hemodynamic status remained tenuous throughout the procedure. Although the first attempt to wean off cardiopulmonary bypass failed, the second attempt was successful with the aid of an intra-aortic balloon pump, inotropic support, and atrioventricular pacing. These measures were maintained during transport to the surgical intensive care unit. In the intensive care unit, the patient did not have an audible blood pressure or a palpable pulse without the support of the intra-aortic balloon pump and atrioventricular pacing. Coarse atrial fibrillation was the underlying electrocardiogram rhythm in the absence of atrioventricular pacing. Sodium bicarbonate was given without improvement. After discussion with the family, all life support measures were discontinued. The patient died 10 minutes after her arrival in the intensive care unit. Alkaptonuria's pathogenesis is manifested as both local and systemic in nature. Collagen vascular diseases share a similar pattern of multisystem involvement. Despite the negative outcome for the patient described, valuable insight can be obtained by studying this case and noting the anesthetic considerations specific to collagen vascular diseases in general.
黑尿症是一种罕见的苯丙氨酸、芳香族氨基酸和酪氨酸代谢疾病。由于尿黑酸氧化酶的基因缺陷，尿黑酸的积累会导致褐黄病色素沉着。最常见的临床表现为关节病、尿路结石和变色、皮肤和软骨色素沉着以及心脏瓣膜疾病。关节病和主动脉狭窄是该疾病最使人衰弱的表现。本文描述了一例黑尿症性主动脉狭窄病例。一名有黑尿症病史的75岁女性因进行性呼吸困难到急诊科就诊。检查时，患者高血压、呼吸急促、心动过速且伴有室性早搏。她有下肢凹陷性水肿，并主诉全身无力。胸部X线显示充血性心力衰竭和肺水肿。给予利尿剂，并在急诊科开始持续静脉输注硝酸甘油。患者入院作进一步评估。患者的呼吸状况持续恶化。入院1天后行气管内插管。随后的心脏评估显示射血分数为35%，重度主动脉狭窄，轻度冠状动脉疾病，缺血性心肌病，以及心尖前运动不能。因持续低血压开始输注多巴酚丁胺，因少尿性肾衰竭开始使用肾剂量多巴胺。患者入院10天后接受了紧急手术，用涤纶补片置换主动脉瓣。手术过程中使用了体外循环和轻度低温。患者的血流动力学状态在整个手术过程中一直不稳定。尽管第一次尝试脱离体外循环失败，但在主动脉内球囊泵、血管活性药物支持和房室起搏的帮助下，第二次尝试成功。在转运至外科重症监护病房期间维持这些措施。在重症监护病房，若无主动脉内球囊泵和房室起搏的支持，患者听不到血压声，也摸不到脉搏。在没有房室起搏的情况下，基础心电图节律为粗颤型心房颤动。给予碳酸氢钠后情况无改善。与家属讨论后，停止了所有生命支持措施。患者到达重症监护病房10分钟后死亡。黑尿症的发病机制在本质上表现为局部和全身性。胶原血管疾病有类似的多系统受累模式。尽管所描述的患者预后不良，但通过研究该病例并注意一般胶原血管疾病特有的麻醉注意事项，仍可获得有价值的见解。
