Beirão Idalina, Almeida Susana, Swinkels Dorine, Costa Paulo M P, Moreira Luciana, Fonseca Isabel, Freitas Cristina, Cabrita António, Porto Graça
Department of Nephrology, HGSA, Santo António General Hospital, Porto, Portugal.
Blood Cells Mol Dis. 2008 Sep-Oct;41(2):175-8. doi: 10.1016/j.bcmd.2008.04.008. Epub 2008 Jun 9.
Familial amyloidosis TTR V30M (FAP-I) usually presents as a sensorimotor and autonomic neuropathy. Anemia was first described in this disease more than 20 years ago and classified as an anemia of chronic disease. However, so far no studies have addressed the role of inflammatory proteins in this disease. The anemia affects 24.8% of symptomatic FAP-I Portuguese patients, and is associated with low serum erythropoietin levels, independently of the presence of clinical nephropathy. In this study we evaluate the role of systemic inflammation on the erythropoietin production and anemia genesis in FAP-I. Data from 24 FAP-I patients (50% with anemia) and 33 healthy controls were analysed. Laboratory data included hemoglobin, hematocrit, ferritin, transferrin saturation, soluble transferrin receptors (sTR), prohepcidin, hepcidin-25, C-reactive protein (CRP), interleukin-6 and erythropoietin levels. In general, FAP-I patients presented significantly lower hemoglobin, hematocrit and observed/expected erythropoietin levels. Mean sTR was lower in FAP-I patients than in controls (2.36+/-1.3 vs 2.96+/-0.8 mg/l, P=0.055) correlating with hemoglobin and hematocrit. As expected, sTR were positively correlated with erythropoietin both in controls and in FAP-I patients. No significant differences on CRP, interleukin-6, transferrin saturation, ferritin and hepcidin-25 were found between anemic and non-anemic FAP-I patients and between non-anemic FAP-I patients and healthy controls. In all groups, a positive correlation was observed between hepcidin-25 and ferritin. Surprisingly, significantly lower prohepcidin levels were found in FAP-I patients, with or without anemia, not correlated with serum hepcidin-25 levels. In general, the decreased observed/expected EPO levels in FAP-I correlated with the prohepcidin levels, therefore raising the possibility that a common defect in these two hormones may be somehow involved in the genesis of the disease.
家族性淀粉样变性TTR V30M（FAP-I）通常表现为感觉运动和自主神经病变。贫血在20多年前首次在这种疾病中被描述，并被归类为慢性病贫血。然而，到目前为止，尚无研究探讨炎症蛋白在这种疾病中的作用。贫血影响24.8%有症状的葡萄牙FAP-I患者，且与血清促红细胞生成素水平低有关，与临床肾病的存在无关。在本研究中，我们评估全身炎症在FAP-I促红细胞生成素产生和贫血发生中的作用。分析了24例FAP-I患者（50%有贫血）和33例健康对照的数据。实验室数据包括血红蛋白、血细胞比容、铁蛋白、转铁蛋白饱和度、可溶性转铁蛋白受体（sTR）、前铁调素、铁调素-25、C反应蛋白（CRP）、白细胞介素-6和促红细胞生成素水平。总体而言，FAP-I患者的血红蛋白、血细胞比容和观察到的/预期的促红细胞生成素水平显著较低。FAP-I患者的平均sTR低于对照组（2.36±1.3对2.96±0.8 mg/l，P=0.055），与血红蛋白和血细胞比容相关。正如预期的那样，sTR在对照组和FAP-I患者中均与促红细胞生成素呈正相关。贫血和非贫血的FAP-I患者之间以及非贫血的FAP-I患者与健康对照之间，在CRP、白细胞介素-6、转铁蛋白饱和度、铁蛋白和铁调素-25方面未发现显著差异。在所有组中，铁调素-25与铁蛋白之间均观察到正相关。令人惊讶的是，在有或无贫血的FAP-I患者中发现前铁调素水平显著较低，且与血清铁调素-25水平无关。总体而言，FAP-I中观察到的/预期的促红细胞生成素水平降低与前铁调素水平相关，因此增加了这两种激素的共同缺陷可能以某种方式参与疾病发生的可能性。
