儿童遗传性球形细胞增多症35例

Childhood hereditary spherocytosis—35 cases report

目的分析35例遗传性球形细胞增多症(HS)患儿的临床特点,增加对本病的认识,做到早诊断,适时治疗及预防,改善患儿的生存质量。方法回顾性分析2001年5月～2012年1月我院初诊的35例HS患儿临床资料。结果贫血及黄疸各34例、脾大35例、肝大27例,25例在感染等因素下有急性溶血发作史,阳性家族史13例。球形红细胞超过20%者29例,渗透脆性试验阳性33例。新生儿期有病理性黄疸史者11例,有胆红素脑病史者2例。脾切除术16例,术后恢复好,无免疫力下降,无复发。结论 HS主要临床表现为贫血、黄疸、脾大、肝大,在感染等因素下可有急性溶血发作,阳性家族史可助诊。但临床表现异质性强。渗透脆性试验阳性、球形红细胞明显增多对于HS诊断有重要意义。脾切除是治疗HS的有效方法。新生儿出现胆红素脑病应考虑HS可能。

Objective To analyze the clinical features, diagnosis and treatment of childhood hereditary spherocytosis （HS） and find the ways to improve the patients＇ cure rate and the quality of life. Methods Clinical data of 35 children with HS in Children＇s Hospital of Chongqing Medical University from May 2001 to Jan 2012 were reviewed retrospectively. Results The clinical manifestations were mainly presented with anemia （34/35）, jaundice （34/35）, splenomegaly （35/35） and hepatomegaly （27/35）. Among them, 25 cases occurred acute hemolysis due to infection; 13 cases had family history of HS; 29 cases had spherical red blood ceils with more than 20% ; 33 cases had a positive result of osmotic fragility test ; 11 cases had the past history of ＂newborn pathological jaundice＂; 2 cases had the past history of ＂bilirubin encephalopathy＂ ; 16 cases received splenectomy, and obtained a favorable outcome without hypoimmunity and relapse. Conclusions The clinical manifestations of HS are presented with anemia, jaundice, splenomegaly and hepatomegaly. Acute hemolysis would be occurred under infection. Family history is helpful for the diagnosis. Positive results of osmotic fragili HS. Splenectomy is an effective bilirubin encephalopathy. ty test and spherical red blood cell counts are necessary for the diagnosis of therapy of HS. Notably, HS should be considered as a cause of newborn bihrubin encephalopathy.