目的 探讨己糖激酶缺乏症的临床特点及基因变化.方法 回顾分析1例己糖激酶缺乏症患儿的临床资料,并进行相关文献复习.结果 男性患儿,6个月,临床表现为新生儿期高胆红素血症、非球形红细胞溶血性贫血、网织红细胞升高等.基因检查发现HK1存在2个杂合突变位点c.995+5 G>A(内含子12)和c.2216 G>C(外显子20);患儿父母均为复合杂合突变,c.995+5 G>A来自父亲,c.2216 G>C来自母亲.文献检索已有报道的32例患者,多表现为出生时贫血、新生儿黄疸及肝脾肿大,基因检测以HK1基因外显子和内含子核苷酸点突变为主.结论 本例患儿为中国首例经基因检测确诊的已糖激酶缺乏症.临床疑似己糖激酶缺乏症时,应尽早进行基因检测.%Objective To explore the clinical characteristics and gene analysis of hexokinase deficiency (HKD). Methods Clinical symptoms, hemolysis, laboratory findings and gene analysis of a boy with HKD in our department were retrospectively analyzed, and the literatures of HKD were reviewed. Results The patient was a six months old boy presented with neonatal hyperbilirubinemia, nonspherocytic hemolyticanemia, and increased proportion of reticulocytes. Genetic testing found two compound heterozygous mutations in HK1: c.995+5G > A (intron 12) inherited from father and c.2216G C (exon 20) inherited from the mother. In the literature, clinical features of the HKD patients were mainly anemic, neonatal jaundice and hepatosplenomegaly, and the gene detection mainly includes point mutation in HK1 gene exon and intron nucleotide. Conclusions In the case with neonatal anemia, jaundice, increased indirect bilirubin, HKD should be considered. Gene analysis can be used for early diagnosis.
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