Hinson D D, Rogers Z R, Hoffmann G F, Schachtele M, Fingerhut R, Kohlschutter A, Kelley R I, Gibson K M
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.
Am J Med Genet. 1998 Aug 6;78(5):408-12.
We describe two patients with mevalonate kinase deficiency and prominent hematologic abnormalities and cholestatic liver disease. Patient R.B. was not anemic at birth, but developed petechiae and cutaneous extramedullary hematopoiesis, hepatosplenomegaly, leukocytosis, and recurrent febrile events without positive bacterial or viral cultures. Patient N.M. manifested minor anomalies, hepatosplenomegaly, anemia, thrombocytopenia, recurrent febrile crises, and facial rashes. Mevalonic aciduria was found by urinary organic acid analysis, and mevalonate kinase deficiency was documented in both. The clinical spectrum of normocytic hypoplastic anemia, leukocytosis, thrombocytopenia, and abnormal blood cell forms led to diagnoses of congenital infection, myelodysplastic syndromes, or chronic leukemia in these patients before recognition of mevalonate kinase deficiency. Mevalonate kinase deficiency represents a single-gene abnormality that may be associated with significant hematologic findings. Recognition of the variability of this disorder with some patients manifesting only mild neurologic findings, yet significant hepatosplenomegaly, normocytic anemia, thrombocytopenia, and leukocytosis is important for all specialists who need to be aware of this organic aciduria.
我们描述了两名患有甲羟戊酸激酶缺乏症且伴有显著血液学异常和胆汁淤积性肝病的患者。患者R.B.出生时无贫血，但出现了瘀点和皮肤髓外造血、肝脾肿大、白细胞增多以及反复发热事件，细菌或病毒培养均为阴性。患者N.M.表现出轻微异常、肝脾肿大、贫血、血小板减少、反复发热危机以及面部皮疹。通过尿有机酸分析发现了甲羟戊酸尿症，两人均确诊为甲羟戊酸激酶缺乏症。这些患者在被识别出甲羟戊酸激酶缺乏症之前，由于出现正细胞性发育不全性贫血、白细胞增多、血小板减少和异常血细胞形态的临床特征，曾被诊断为先天性感染、骨髓增生异常综合征或慢性白血病。甲羟戊酸激酶缺乏症代表一种单基因异常，可能与显著的血液学表现相关。认识到这种疾病的变异性很重要，有些患者仅表现出轻微的神经系统症状，但却有显著的肝脾肿大、正细胞性贫血、血小板减少和白细胞增多，这对于所有需要了解这种有机酸尿症的专科医生来说都很重要。
