过量的红细胞原卟啉影响显性红细胞生成性原卟啉症患者的血液学状态和铁代谢。

Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria.

作者信息

Delaby C, Lyoumi S, Ducamp S, Martin-Schmitt C, Gouya L, Deybach J C, Beaumont C, Puy H

机构信息

INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, BP416, 75018 Paris, France.

出版信息

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):45-52.

DOI:
Abstract

Partial deficiency of the last enzyme of the heme biosynthetic pathway (namely ferrochelatase, FECH) in humans is responsible for erythropoietic protoporphyria (EPP). This disorder is characterised by painful photosensitivity, due to excessive production of protoporphyrin IX (PPIX) by erythrocytes. Controversial hypotheses have been proposed to explain the hematologic and iron status of EPP patients. In the present work, we explored these parameters in 55 patients with dominant EPP recruited at the French Center of Porphyrias (Colombes, France) and confirmed by molecular analysis. Our data show that erythrocyte accumulation of PPIX in EPP patients influences hematologic and iron status. Patients studied had a mild anemia and thrombocytopenia, as shown by the downward shift of hematologic parameters, which positively correlated with the amount of erythrocyte PPIX. Interestingly, erythropoiesis did not seem to be limited by iron supply in patients, since serum iron and soluble transferring (Tf) receptor (sTfR) were normal. However, iron and Tf saturation negatively correlated with erythrocyte PPIX. Moreover, and as previously described in a mouse model of EPP, we noted a positive correlation between erythrocyte PPIX and Tf levels. Altogether, these results suggest a positive effect of PPIX on the synthesis on Tf, which could facilitate the mobilization of tissue iron stores to meet erythropoiesis requirement. Based on these observations and previous results in EPP mouse model, we propose that the PPIX-liver transferrin pathway plays a role in the orchestration of iron distribution between peripheral iron stores, the spleen and the bone marrow.

摘要

人类血红素生物合成途径中最后一种酶(即亚铁螯合酶,FECH)的部分缺陷会导致红细胞生成性原卟啉症(EPP)。这种疾病的特征是具有疼痛性光敏感,这是由于红细胞过度产生原卟啉IX(PPIX)所致。人们已经提出了一些有争议的假说来解释EPP患者的血液学和铁状态。在本研究中,我们对法国卟啉病中心(法国科隆布)招募的55例显性EPP患者进行了这些参数的研究,并通过分子分析进行了确认。我们的数据表明,EPP患者红细胞中PPIX的积累会影响血液学和铁状态。研究的患者存在轻度贫血和血小板减少症,血液学参数下降表明了这一点,且这些参数与红细胞PPIX的量呈正相关。有趣的是,患者的红细胞生成似乎不受铁供应的限制,因为血清铁和可溶性转铁蛋白(Tf)受体(sTfR)均正常。然而,铁和Tf饱和度与红细胞PPIX呈负相关。此外,正如之前在EPP小鼠模型中所描述的,我们注意到红细胞PPIX与Tf水平之间存在正相关。总之,这些结果表明PPIX对Tf的合成有积极作用,这可能有助于动员组织铁储备以满足红细胞生成的需求。基于这些观察结果以及之前在EPP小鼠模型中的研究结果,我们提出PPIX-肝脏转铁蛋白途径在协调外周铁储备、脾脏和骨髓之间的铁分布中发挥作用。

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