摘要
目的探讨儿童遗传性球形红细胞增多症(HS)的临床特点及其诊断。方法对新乡医学院第一附属医院2008年12月至2019年7月收治的34例HS患儿临床资料进行分析。结果在34例HS患儿中,男15例,女19例,男:女为0.8∶1;起病中位年龄为16.5个月[四分位距(IQR):1.046.0],诊断中位年龄为29.5个月(IQR:11.679.0)。有17例(50.0%)患儿家族史阳性,有12例(35.3%)发生了并发症;首诊时有25例(73.5%)同时存在贫血、黄疸、脾肿大,有9例(26.5%)临床表现不典型。在34例患儿中,对29例行Coombs试验结果均为阴性;对31例行外周血涂片和(或)骨髓涂片检查,其中24例(77.4%)可见球形红细胞;对30例行红细胞渗透脆性试验,其中23例(76.7%)增高;对1例行基因检测,为SPTB基因突变。随访显示,对20例(58.8%)重度贫血患儿行输血治疗,输血后红细胞计数、血红蛋白浓度较输血前均明显升高(t值分别为-11.107、-10.400,P<0.05),红细胞分布宽度变异系数较输血前明显下降(t=4.454,P<0.05);对13例(38.2%)患儿行全脾切除术,术后3天、术后1周与术前比较,红细胞计数、血红蛋白浓度、血小板计数、红细胞分布宽度变异系数、总胆红素均明显好转(F值分别为23.144、24.576、74.499、33.085、5.989,P<0.05)。结论对于临床表现不典型的HS患儿,应结合实验室检查,对诊断不明确的患儿应进行长期追踪,减少误诊、漏诊。
Objective To explore clinical features and diagnosis of hereditary spherocytosis(HS)in children.Methods The clinical data of 34 children with HS who admitted to The First Affiliated Hospital of Xinxiang Medical College from December 2008 to July 2019 were analyzed.Results 34 children with HS inclued 15 male children and 19 female children,and the male over female ratio was 0.8∶1.The median age of onset was 16.5 months[interquartile range(IQR)=1.0~46.0],and the median age at diagnosis was 29.5 months(IQR=11.6~79.0).17 children(50.0%)had positive family history,and 12 children(35.3%)had complications.25 children(73.5%)had anemia,jaundice and splenomegaly at the first visit,and 9 children(26.5%)had atypical clinical manifestations.Among 34 children,29 children who were examined with Coombs test all had negative results.Among 31 children who received peripheral blood smears and/or bone marrow smears,spheroid red blood cells were seen in 24 children(77.4%).Among 30 children who received red blood cell osmotic fragility test,23 children(76.7%)presented with increased red blood cell osmotic fragility.1 child received gene test,and shown SPTB gene mutation.20 children(58.8%)with severe anemia received blood transfusion,after blood transfusion,their red blood cell count and hemoglobin concentration elevated significantly as compared with those before blood transfusion(t=-11.107 and-10.400 respectively,both P<0.05),and the coefficient of variation of red blood cell distribution width was significantly lower than before blood transfusion(t=4.454,P<0.05).13 children(38.2%)underwent total splenectomy,and at 3 days after operation and 1 week after operation,their red blood cell count,hemoglobin concentration,platelet count,coefficient of variation of red blood cell distribution width and total bilirubin all improved significantly compared with those before operation(F=23.144,24.576,74.499,33.085 and 5.989 respectively,all P<0.05).Conclusion For those children with atypical clinical manifestations of HS,laboratory examinations should be conducted,and long-term follow-up of those children with unclear diagnosis should be carried out to reduce misdiagnosis and missed diagnosis.
作者
闫彦睿
李培岭
刘豹
范蕊
石太新
YAN Yanrui;LI Peiling;LIU Bao;FAN Rui;SHI Taixin(Department of Pediatrics,The First Affiliated Hospital of Xinxiang Medical College,Henan Weihui 453100,China)
出处
《中国妇幼健康研究》
2021年第7期1010-1014,共5页
Chinese Journal of Woman and Child Health Research
关键词
遗传性球形红细胞增多症
儿童
球形红细胞
输血
脾切除术
hereditary spherocytosis(HS)
children
spherical red blood cells
blood transfusion
splenectomy
