Gurlek Gokcebay Dilek, Akpinar Tekgunduz Sibel, Cavdarli Busranur
University of Health Sciences Kecioren Training and Research Hospital, Department of Pediatric Hematology, Turkey.
University of Health Sciences Kecioren Training and Research Hospital, Department of Pediatric Hematology, Turkey.
Eur J Med Genet. 2020 Jun;63(6):103880. doi: 10.1016/j.ejmg.2020.103880. Epub 2020 Feb 8.
Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even "pseudo"-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on peripheral blood smear, elevated lactate dehydrogenase and thrombocytopenia are common findings of TMA. We report a child presenting with TMA features with cobalamin deficiency. Because of her family history of vitamin B12 deficiency and proteinuria, the performed genetic analysis revealed that an Imerslund-Gräsbeck Syndrome with the detection of a homozygous mutation in AMN gene.
艾默斯伦德-格里斯贝克综合征是一种罕见的常染色体隐性疾病，其特征为蛋白尿和钴胺素选择性吸收不良。钴胺素缺乏可导致巨幼细胞贫血、全血细胞减少，甚至“假性”血栓性微血管病（TMA）。外周血涂片出现机械性溶血迹象、乳酸脱氢酶升高和血小板减少是TMA的常见表现。我们报告一名患有钴胺素缺乏且具有TMA特征的儿童。由于其家族有维生素B12缺乏和蛋白尿病史，所进行的基因分析显示为艾默斯伦德-格里斯贝克综合征，检测到AMN基因存在纯合突变。
