Hereditary fibrinogen A α-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation
Hereditary fibrinogen A α-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation
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DOI：
10.1182/blood-2009-06-223792
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发表时间：
2010-04-15
期刊：
影响因子：
20.3
通讯作者：
Benson, Merrill D.
中科院分区：
文献类型：
--
作者：
Stangou, Arie J.;Banner, Nicholas R.;Benson, Merrill D.
纤维蛋白原A α链（AFib）的变异体在欧洲和可能在美国引起最常见的遗传性肾淀粉样变性。变异的纤维蛋白原在肝脏中产生，单独的同种异体肾移植在1 - 7年内失败，复发性淀粉样变性。我们评估了22例接受肝肾联合移植（LKT）的AFib患者，并报告了其临床特征和结局。21例携带E526 V，1例携带R554 L变异体。冠状动脉粥样硬化和全身动脉粥样硬化分别为68%和55%。动脉内膜切除术中切除的血管粥样硬化和心内膜心肌活检含有纯粹的变异纤维蛋白原淀粉样蛋白。一半有自主神经病变。9例接受LKT的患者中有6例存活（67%），中位随访时间为67个月（范围33-155个月），移植物功能良好，无淀粉样变性。对2例先行LKT的患者进行了连续的99 mTc-DMSA肾动脉造影，结果显示5年时保留了原有的肾功能。4例肝移植均获成功。纤维蛋白原淀粉样变性是一种累及内脏、血管、心脏和神经系统的系统性淀粉样疾病。LKT是治愈性的;然而，心血管淀粉样变性可能排除这种选择。我们的数据鼓励在淀粉样蛋白肾病早期评估先行性孤立肝移植以预防血液透析和肾移植。（血。2010; 115（15）：2998-3007）
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 (Tc-99m-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. (Blood. 2010; 115(15): 2998-3007)