先天性純紅細(xì)胞再生障礙性貧血患兒臨床表現(xiàn)及基因檢測(cè)
發(fā)布時(shí)間：2018-11-19 09:48
【摘要】：目的探討先天性純紅細(xì)胞再生障礙性貧血(DBA)的臨床特點(diǎn)及其致病基因。方法回顧分析2例DBA患兒的臨床資料以及基因檢測(cè)結(jié)果,同時(shí)復(fù)習(xí)相關(guān)文獻(xiàn)。結(jié)果兩例患兒均為女性,分別為3月齡和4月齡;均以面色蒼黃就診。血常規(guī)紅細(xì)胞偏低、血紅蛋白低、網(wǎng)織紅細(xì)胞計(jì)數(shù)低;血清鐵及鐵蛋白均升高;紅細(xì)胞脆性實(shí)驗(yàn)未見異常。骨髓細(xì)胞學(xué)均提示髓象幼紅細(xì)胞罕見�；驒z測(cè),例1的RPS19存在c.91CT(p.P31S)雜合突變,其父母未見突變,該突變?yōu)樾掳l(fā)突變,經(jīng)驗(yàn)證為致病基因;例2的RPL5基因存在c.472_473del缺失突變(p.K158fs),為已知致病基因。結(jié)論 DBA患兒多在出生早期發(fā)病,臨床表現(xiàn)為紅系缺乏,RPS19及RPL5基因突變較常見,相關(guān)基因檢測(cè)有利于早期診斷;c.91CT(p.P 31 S)雜合突變?yōu)槲匆妶?bào)道的新突變。
[Abstract]:Objective to investigate the clinical features and pathogenetic genes of congenital pure red blood cell aplastic anemia (DBA). Methods the clinical data and gene test results of 2 cases with DBA were retrospectively analyzed and the related literatures were reviewed. Results the two cases were all female, 3 months old and 4 months old respectively. RBC was low, hemoglobin was low, reticulocyte count was low, serum iron and ferritin were increased, and erythrocyte fragility test was not abnormal. Bone marrow cytology suggests that myeloid juvenile erythrocytes are rare. In case 1, c.91CT (p.P31S) heterozygosity was detected in RPS19, but no mutation was found in parents. The mutation was a new mutation and proved to be a pathogenic gene. In case 2, c.472_473del deletion mutation (p.K158fs) was found in the RPL5 gene, which was known to cause the disease. Conclusion most of the children with DBA develop at the early stage of birth, the clinical manifestation is lack of erythroid, the mutation of RPS19 and RPL5 genes is more common, the detection of related genes is helpful for early diagnosis, c.91CT (p.P31S) heterozygosity mutation is a new mutation that has not been reported.
【作者單位】： 單縣海吉亞醫(yī)院兒科;
【分類號(hào)】：R725.5
[Abstract]:Objective to investigate the clinical features and pathogenetic genes of congenital pure red blood cell aplastic anemia (DBA). Methods the clinical data and gene test results of 2 cases with DBA were retrospectively analyzed and the related literatures were reviewed. Results the two cases were all female, 3 months old and 4 months old respectively. RBC was low, hemoglobin was low, reticulocyte count was low, serum iron and ferritin were increased, and erythrocyte fragility test was not abnormal. Bone marrow cytology suggests that myeloid juvenile erythrocytes are rare. In case 1, c.91CT (p.P31S) heterozygosity was detected in RPS19, but no mutation was found in parents. The mutation was a new mutation and proved to be a pathogenic gene. In case 2, c.472_473del deletion mutation (p.K158fs) was found in the RPL5 gene, which was known to cause the disease. Conclusion most of the children with DBA develop at the early stage of birth, the clinical manifestation is lack of erythroid, the mutation of RPS19 and RPL5 genes is more common, the detection of related genes is helpful for early diagnosis, c.91CT (p.P31S) heterozygosity mutation is a new mutation that has not been reported.
【作者單位】： 單縣海吉亞醫(yī)院兒科;
【分類號(hào)】：R725.5
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