Kaczorowska-Hac Barbara, Sikorska Katarzyna, Bielawski Krzysztof P, Schramm Krystyna, Balcerska Anna
Department of Pediatry, Hematology, Oncology & Endocrinology, Medical University of Gdańsk, Gdańsk, Poland.
Int J Hematol. 2007 May;85(4):300-3. doi: 10.1532/IJH97.E0605.
Iron-overload diseases are associated with primary or secondary disturbances of iron metabolism. Hereditary hemochromatosis, a genetically heterogeneous disease that is characterized by increased iron absorption and progressive deposition in parenchymal cells, may lead to organ damage and failure. Molecular studies have shown that hemochromatosis type 1 is predominantly due to a mutation in the HFE gene; there are 2 major mutations (C282Y and H63D). Disease symptoms are observed mostly after 40 years of age, often in men. We report the unusual case of a 16-year-old girl with an elevated serum iron level and a hypoplastic kidney. Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1. The early detection of hemochromatosis in the presented case may delay organ damage and failure due to iron overload.
铁过载疾病与铁代谢的原发性或继发性紊乱有关。遗传性血色素沉着症是一种基因异质性疾病，其特征是铁吸收增加并在实质细胞中进行性沉积，可能导致器官损伤和功能衰竭。分子研究表明，1型血色素沉着症主要是由于HFE基因突变所致；有2种主要突变（C282Y和H63D）。疾病症状大多在40岁以后出现，男性更为常见。我们报告了一例罕见病例，一名16岁女孩血清铁水平升高且肾脏发育不全。HFE基因突变C282Y/H63D杂合性的鉴定证实了1型血色素沉着症的诊断。本病例中血色素沉着症的早期发现可能会延缓因铁过载导致的器官损伤和功能衰竭。
