The diagnosis and characteristics of renal heavy-chain and heavy/light-chain amyloidosis and their comparison with renal light-chain amyloidosis
The diagnosis and characteristics of renal heavy-chain and heavy/light-chain amyloidosis and their comparison with renal light-chain amyloidosis
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DOI：
10.1038/ki.2012.414
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发表时间：
2013-03-01
影响因子：
19.6
通讯作者：
Leung, Nelson
中科院分区：
文献类型：
--
作者：
Nasr, Samih H.;Said, Samar M.;Leung, Nelson
关于重链和轻链淀粉样变性（阿勒）和重链淀粉样变性（AH）的罕见实体知之甚少。在这里，我们报告了16例肾AH/阿勒患者（5例AH和11例阿勒）的肾脏和血液学特征、病理学和结局，并将其与同期诊断的202例肾轻链淀粉样变性（AL）患者进行比较。所有病例均经肾活检确诊，显示刚果红阳性沉积物。对12例患者进行了激光显微切割和质谱（LMD/MS）分型，对4例患者进行了免疫荧光分型。所有肾脏AH/阿勒患者均为白人，男性/女性比例为2.2，活检时的中位年龄为63岁。与肾性AL患者相比，肾性AH/阿勒患者并发心脏受累的频率较低，循环中存在完全单克隆免疫球蛋白的可能性较高，脂肪垫活检和骨髓活检检测淀粉样蛋白的敏感性较低，血尿发生率较高，患者生存率较好。对化疗的血液学反应与肾AL相当。在42%的患者中，AH/AHL不能在没有LMD/MS的情况下被诊断。因此，肾AH/阿勒是淀粉样变性的一种不常见且认识不足的形式，并且其诊断通过使用LMD/MS进行淀粉样蛋白分型而大大增强。肾AH/阿勒的准确组织学诊断和与AL的鉴别可能具有重要的临床和预后意义。Kidney International（2013）83，463-470; doi：10.1038/ki.2012.414; 2013年1月9日在线发表
Little is known about the rare entities of heavy- and light-chain amyloidosis (AHL) and heavy-chain amyloidosis (AH). Here, we report the renal and hematological characteristics, pathology, and outcome of 16 patients with renal AH/AHL (5 with AH and 11 with AHL) and compare them with 202 patients with renal light-chain amyloidosis (AL) diagnosed during the same time period. All cases were diagnosed by kidney biopsy that showed Congo red-positive deposits. Amyloid typing was done by laser microdissection and mass spectrometry (LMD/MS) on 12 patients or by immunofluorescence on four patients. All patients with renal AH/AHL were Caucasians, with a male/female ratio of 2.2 and a median age at biopsy of 63 years. Compared with patients with renal AL, those with renal AH/AHL had less frequent concurrent cardiac involvement, higher likelihood of having circulating complete monoclonal immunoglobulin, lower sensitivity of fat pad biopsy and bone marrow biopsy for detecting amyloid, higher incidence of hematuria, and better patient survival. The hematological response to chemotherapy was comparable with renal AL. In 42% of patients, AH/AHL could not have been diagnosed without LMD/MS. Thus, renal AH/AHL is an uncommon and underrecognized form of amyloidosis, and its diagnosis is greatly enhanced by the use of LMD/MS for amyloid typing. The accurate histological diagnosis of renal AH/AHL and distinction from AL may have important clinical and prognostic implications. Kidney International (2013) 83, 463-470; doi:10.1038/ki.2012.414; published online 9 January 2013