Subjects: Medicine, Pharmacy >> Preclinical Medicine submitted time 2017-12-07 Cooperative journals: 《分子影像学杂志》
Abstract：遗传性骨髓衰竭综合征是一组遗传性疾病，虽然它们具有共同的临床特征，但它们也有各自的临床表现，且临床表现多样化，往往容易导致临床误诊或漏诊。虽然这组疾病的临床表现多样化，遗传学改变及基因异常往往是其根源所在，故一旦考虑这组疾病，建议行相关遗传学及基因检测，如果有条件可同时辅助其他检查手段如端粒酶长度等。虽然这组疾病的发病率不高，但随着下一代基因测序检测手段的应用，越来越多的致病基因被发现，也为准确诊断疾病提供了有利帮助。造血干细胞移植往往是根治这组疾病的唯一手段，而造血干细胞移植也有其局限性及治疗相关的风险，需根据病情而定。本文将从疾病的临床特征、遗传学特征、诊断、治疗及预后等方面对这一组疾病进行综述，以便临床医师能更加深入认识这组疾病，并及时进行诊断及治疗。
Subjects: Medicine, Pharmacy >> Preclinical Medicine submitted time 2017-12-07 Cooperative journals: 《南方医科大学学报》
Abstract： Objective To explore the clinical features, laboratory findings and treatment of infant leukemia. Methods A retrospective analysis of the clinical data was performed of the cases with the diagnosis of infant acute leukemia from August 1993 to October 2014 in our hospital. Results A total of 144 cases of infant leukemia were diagnosed in the defined period, including 83 cases of acute lymphoblastic leukemia, 55 myeloid leukemia, 1 hybrid acute leukaemia and 5 with incompatible cytological and immunophenotyping findings. The patients at the age of 9 to 12 months accounted for the largest proportion (38.2%), and 87.5% of the patients had hepatosplenomegaly; Six patients below 6 months old had skin infiltration. In about 1/3 of the patients, the white blood cells count was no greater than 100�09 /L. Ninety-five patients had chromosome examinations, which identified chromosome abnormalities in 67 patients, including 18 positive for t(4;11)or t(9;11)or t(11;19), and younger patients were more likely to have chromosome abnormalities. Thirty-seven patients underwent MLL gene detection and 11 of them had positive results; the positive patients had higher rate of chromosome 11 abnormalities than the negative patients. Most of the patients gave up treatments after diagnosis and only 6 patients older than 6 months completed regular chemotherapeutic treatments and were now in complete remission. Conclusion Infant leukemia is a rare type of leukemia with different clinical features from other types of leukemia. The patients often present with hepatosplenomegaly, high white blood cell counts, MLL gene fusion, and chromosome 11 abnormalities. The prognosis of infant leukemia is not favorable, and the current treatment still relies on chemotherapy.
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