Cuijpers M L H Marloes, Wiegerinck Erwin T G, Brouwer Rick, de Witte Theo J M, Swinkels Dorine W
Universitair Medisch Centrum St. Radboud, Nijmegen, Afd. Hematologie, the Netherlands.
Ned Tijdschr Geneeskd. 2010;154:A1038.
A 36-year old female patient who had had iron deficiency anaemia since her childhood showed no clear response to oral iron treatment. Elevated serum hepcidin levels were found after excluding other causes of iron deficiency. This is in contrast to what is expected in iron deficiency anaemia and indicates a primary defect in hepcidin regulation. Indeed, in the search for a defect in genes coding for hepcidin-regulating proteins the patient was found to be compound heterozygous for two different mutations in the TMPRSS6 gene. This leads to a dysfunctional matriptase-2 protein for which the gene codes. Consequently, liver cells cannot inhibit hepcidin production in the presence of low serum iron levels. High hepcidin levels result in less iron being absorbed from the bowel than is necessary for erythropoiesis. Therefore, patients with matriptase-2 deficiency respond poorly to oral iron treatment and have to be treated with intravenous iron.
一名36岁女性患者自幼患有缺铁性贫血，口服铁剂治疗后未出现明显反应。排除缺铁的其他原因后，发现血清铁调素水平升高。这与缺铁性贫血的预期情况相反，表明铁调素调节存在原发性缺陷。事实上，在寻找铁调素调节蛋白编码基因的缺陷时，发现该患者在TMPRSS6基因中有两种不同突变的复合杂合子。这导致该基因编码的matriptase-2蛋白功能失调。因此，在血清铁水平较低的情况下，肝细胞无法抑制铁调素的产生。高铁调素水平导致肠道吸收的铁少于红细胞生成所需的量。因此，matriptase-2缺乏症患者对口服铁剂治疗反应不佳，必须接受静脉铁剂治疗。
