Institute of Liver Studies and Amyloidosis Treatment Centre, King's College Hospital, London SE5 9RS, United Kingdom.
Blood. 2010 Apr 15;115(15):2998-3007. doi: 10.1182/blood-2009-06-223792. Epub 2009 Jul 24.
Variants of fibrinogen A alpha-chain (AFib) cause the most common type of hereditary renal amyloidosis in Europe and, possibly, the United States as well. Variant fibrinogen is produced in the liver, and solitary renal allografts fail within 1 to 7 years with recurrent amyloidosis. We assessed 22 AFib patients for combined liver and kidney transplantation (LKT) and report the clinical features and outcome. Twenty-one had E526V and 1, the R554L variant. Coronary atherosclerosis was identified in 68% and systemic atheromatosis in 55%. Vascular atheroma excised at endarterectomy and endomyocardial biopsies contained purely variant fibrinogen amyloid. Half had autonomic neuropathy. Six of 9 patients who underwent LKT are alive (67%), with good allograft function and no amyloidosis at median 67 months (range, 33-155 months) of follow-up. Serial technetium-99m-labeled dimercaptosuccinic acid ((99m)Tc-DMSA) renal scintigraphy in 2 cases of preemptive LKT demonstrated preserved native kidney residual function at 5 years. Four explanted livers were used successfully for domino transplantation. Fibrinogen amyloidosis is a systemic amyloid disease with visceral, vascular, cardiac, and neurologic involvement. LKT is curative; however, cardiovascular amyloidosis may preclude this option. Our data encourage evaluation of preemptive solitary liver transplantation early in the course of amyloid nephropathy to prevent hemodialysis and kidney transplantation.
纤维蛋白原 A 链变体（AFib）引起欧洲最常见的遗传性肾淀粉样变性，可能也引起美国的该疾病。变体纤维蛋白原在肝脏中产生，孤立的同种异体肾移植在 1 至 7 年内会因复发性淀粉样变性而失败。我们评估了 22 例纤维蛋白原 A 链变体患者进行肝肾联合移植（LKT）的情况，并报告了其临床特征和结果。21 例患者存在 E526V 及 1 例 R554L 变体。68%的患者存在冠状动脉粥样硬化，55%的患者存在全身性动脉粥样硬化。在动脉内膜切除术和心内膜活检中切除的血管动脉粥样硬化斑块中仅含有变体纤维蛋白原淀粉样物质。半数患者存在自主神经病变。9 例接受 LKT 的患者中，有 6 例（67%）存活，中位随访 67 个月（范围为 33-155 个月）时，移植物功能良好，无淀粉样变性。2 例预防性 LKT 的锝-99m-二巯丁二酸（(99m)Tc-DMSA）肾闪烁扫描显示，5 年内保留了正常肾脏的残留功能。4 个供肝成功用于多米诺肝移植。纤维蛋白原淀粉样变性是一种系统性淀粉样变性疾病，涉及内脏、血管、心脏和神经系统。LKT 是一种治愈方法；然而，心血管淀粉样变性可能会排除这种选择。我们的数据鼓励在淀粉样肾病的早期阶段评估预防性孤立性肝移植，以预防血液透析和肾移植。
