目的 探讨先天性纯红细胞再生障碍性贫血(DBA)的临床特点及其致病基因.方法 回顾分析2例DBA患儿的临床资料以及基因检测结果,同时复习相关文献.结果 两例患儿均为女性,分别为3月龄和4月龄;均以面色苍黄就诊.血常规红细胞偏低、血红蛋白低、网织红细胞计数低;血清铁及铁蛋白均升高;红细胞脆性实验未见异常.骨髓细胞学均提示髓象幼红细胞罕见.基因检测,例1的RPS19存在c.91C＞T(p.P31S)杂合突变,其父母未见突变,该突变为新发突变,经验证为致病基因;例2的RPL5基因存在c.472_473 del缺失突变(p.K1S8fs),为已知致病基因.结论 DBA患儿多在出生早期发病,临床表现为红系缺乏,RPS19及RPL5基因突变较常见,相关基因检测有利于早期诊断;c.91C＞T(p.P31S)杂合突变为未见报道的新突变.%Objective To investigate the clinical and genetic features of Diamond-Blackfan anemia (DBA).Method The clinical manifestations and genetic tests of 2 cases with DBA were retrospectively analyzed,and the related literatures were reviewed.Results Two female patient (3-4 month old) with progressive ochriasis nearly a month was included.Fever,seizure,vomit and abnormal change in urine and stool routine test were not shown.Blood routine test:the number of RBC in the two patients was decreased (1.24 × 1012/L and 1.48× 1012/L),HGB (46 g/L and 39 g/L),and the number of RTC was also decreased (4.1 × 109/L and 4.3 × 109/L),RCV was normal (108.4 fl).Serum iron determination:Fe (44.3 mmol/L and 41.5 mmol/L) and ferritin (469.2 mmol/L and 491.7 ng/mL) were increased,transferrin was in the normal range.Erythrocyte fragility test resulted normal.Bone marrow examination found rarely erythroblasts.A novel heterozygous mutation in RPS19 gene,c.91C＞T (p.P31S),was found by genetic testing on patient 1.And we found a heterozygous mutation in RPL5 gene (c.472_473del) in patient 2.Conclusion The majority of onset age of childhood DBA was within a few months with a erythroid deficiency.And RPS19 gene mutation is a common cause of this disease.The mutation of c.91C＞T (p.P31 S) has not been reported.
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