Tavil Betul, Sivri Hatice Serapl Kalkanoglu, Coskun Turgay, Gurgey Aytemiz, Ozyurek Emel, Dursun Ali, Tokatli Aysegul, Altay Cigdem, Gumruk Fatma
Pediatric Hematology Unit, Hacettepe University School of Medicine, Ankara, Turkey,
J Inherit Metab Dis. 2006 Oct;29(5):607-11. doi: 10.1007/s10545-006-0379-8. Epub 2006 Aug 12.
Early detection and therapy of haematological abnormalities and/or diseases may improve the prognosis of metabolic disorders. Accordingly, we aimed to evaluate the frequency and types of haematological abnormalities in children[-31pc] with various inherited metabolic disorders. The study group comprised 46 children with metabolic disorders who were followed at the Pediatric Metabolism Unit and were referred to the Pediatric Hematology Unit for evaluation of anaemia between June 2000 and 2005. The mean age of the children was 55.2 +/- 64.8 months at haematological evaluation (range 1 month-18 years, median 22.0 months); 16 were female and 30 were male. Of these 46 patients with anaemia, 25 of (54.3%) had anaemia of chronic disease (ACD), 9 (19.6%) had iron-deficiency anaemia (IDA), 7 (15.2%) had megaloblastic anaemia due to vitamin B(12) deficiency, 3 (6.5%) had chronic haemolytic anaemia, 2 (4.3%) had autoimmune haemolytic anaemia, 1 had beta-thalassaemia major, and 1 had hereditary spherocytosis. In addition to the anaemia, bicytopenia or pancytopenia was found in 8 of 46 children (17.4%). The study indicated that in organic acidaemias including methylmalonic acidaemia, propionic acidaemia, isovaleric acidaemia, and argininosuccinic acidaemia, the majority of patients had ACD (75%), which was followed by vitamin B(12) deficiency anaemia and IDA (p < 0.001). In PKU, both nutritional anaemias and ACD were present at about same frequency: 46.7% and 40%, respectively (p > 0.05). This study suggested that congenital anaemias such as hereditary spherocytosis or thalassaemias should be kept in mind as a coexisting haematological diseases in young patients with inborn errors of metabolism. In conclusion, ACD and nutritional anaemias are the most prevalent anaemias seen in patients with inborn errors of metabolism. Early detection of the disease, early administration of specific diet, and close monitoring of the patients are very important factors to prevent the development of haematological diseases in patients with inborn errors of metabolism.
血液学异常和/或疾病的早期检测与治疗可能会改善代谢紊乱的预后。因此，我们旨在评估患有各种遗传性代谢紊乱的儿童血液学异常的频率和类型。研究组包括46名患有代谢紊乱的儿童，他们于2000年6月至2005年期间在儿科代谢科接受随访，并被转诊至儿科血液科评估贫血情况。血液学评估时儿童的平均年龄为55.2±64.8个月（范围1个月至18岁，中位数22.0个月）；16名女性，30名男性。在这46例贫血患者中，25例（54.3%）患有慢性病贫血（ACD），9例（19.6%）患有缺铁性贫血（IDA），7例（15.2%）因维生素B12缺乏患有巨幼细胞贫血，3例（6.5%）患有慢性溶血性贫血，2例（4.3%）患有自身免疫性溶血性贫血，1例患有重型β地中海贫血，1例患有遗传性球形红细胞增多症。除贫血外，46名儿童中有8名（17.4%）发现有二系血细胞减少或全血细胞减少。研究表明，在包括甲基丙二酸血症、丙酸血症、异戊酸血症和精氨琥珀酸血症在内的有机酸血症中，大多数患者患有ACD（75%），其次是维生素B12缺乏性贫血和IDA（p<0.001）。在苯丙酮尿症中，营养性贫血和ACD的出现频率大致相同：分别为46.7%和40%（p>0.05）。本研究提示，对于患有先天性代谢缺陷的年轻患者，应将遗传性球形红细胞增多症或地中海贫血等先天性贫血作为并存的血液学疾病予以考虑。总之，ACD和营养性贫血是先天性代谢缺陷患者中最常见的贫血类型。疾病的早期检测、特定饮食的早期给予以及对患者的密切监测是预防先天性代谢缺陷患者血液学疾病发生的非常重要的因素。
