Kodama Koya, Noguchi Atsuko, Adachi Hiroyuki, Hebiguchi Miwa, Yano Michihiro, Takahashi Tsutomu
Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Pediatr Int. 2014 Aug;56(4):e41-4. doi: 10.1111/ped.12395.
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation, low serum iron, normal-high serum ferritin, and increased hepcidin. This disease is caused by loss-of-function mutations in TMPRSS6 that lead to high hepcidin and result in severe anemia. We report our experience with an 11-year-old Japanese girl with hypochromic microcytic anemia, low serum iron, and high serum ferritin, with anemia that was refractory to the oral iron that was prescribed frequently from early childhood. Presence of high hepcidin suggested a diagnosis of IRIDA, which was eventually confirmed by identification of a novel homozygous mutation, p.Pro354Leu, in the TMPRSS6 gene. This case suggests that serum hepcidin should be routinely measured for differential diagnosis when patients with IDA are unresponsive to oral iron or have unusual clinical features.
铁难治性缺铁性贫血（IRIDA）是一种罕见的常染色体隐性疾病，其特征为先天性低色素小细胞性贫血、转铁蛋白饱和度低、血清铁水平低、血清铁蛋白正常或升高以及铁调素增加。该疾病由TMPRSS6功能丧失性突变引起，导致铁调素水平升高并引发严重贫血。我们报告了一名11岁日本女孩的病例，她患有低色素小细胞性贫血、血清铁水平低和血清铁蛋白升高，自幼儿期起经常服用口服铁剂，但贫血仍难以治愈。铁调素水平升高提示IRIDA的诊断，最终通过在TMPRSS6基因中鉴定出一种新的纯合突变p.Pro354Leu得以确诊。该病例表明，当缺铁性贫血患者对口服铁剂无反应或具有不寻常的临床特征时，应常规检测血清铁调素以进行鉴别诊断。
