肝豆状核变性合并溶血性贫血11例临床分析  

Clinical study of hepatolenticular degeneration complicated with hemolytic anemia in children

作　　者：陈森[1] 姜丽华[1] 刘嫣[1] 李静岩[1] 张美玉[1] 乔丽津[1] 王文红[1] 张碧丽[1] 

机构地区：[1]天津市儿童医院血液科,300074

出　　处：《中国小儿血液与肿瘤杂志》2011年第5期220-224,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的探讨肝豆状核变性(HLD)患儿合并溶血性贫血时的临床特点及诊治要点。方法对11例HLD合并溶血性贫血患儿的临床资料进行分析。全部患儿进行了血常规、血气分析、血电解质、肝肾功能及铜蓝蛋白水平检测,部分患儿行24 h尿铜、血铜水平检测,并对部分患儿的一级亲属进行血铜蓝蛋白水平检测。结果 11例患儿均符合HLD诊断标准。就诊时中位血红蛋白浓度为69g/L,中位网织红细胞百分数为5.9%。所有患儿查体均伴有肝脏肿大,脾脏无肿大。直接及间接胆红素水平均升高,天门冬氨酸氨基转移酶(AST)、γ谷氨酰转肽酶(γ-GGT)升高,而丙氨酸氨基转移酶(ALT)升高不明显,AST/ALT>1,二者比值中位数为3.6,伴有血红蛋白尿患儿AST/ALT比值高于无血红蛋白尿患儿。部分患儿伴有继发性Faconi综合征。腹部B超检查可见胆囊结石。11例均予口服青霉胺联合锌盐治疗,其中7例给予输血治疗。结论对儿童coombs试验阴性的溶血性贫血患儿,若黄疸程度与转氨酶升高程度不符,AST/ALT比值>1甚至更高,且同时伴有低钾、低磷血症等继发性Faconi综合征表现者,要考虑HLD可能。对此类患儿应仔细询问家族史,及时加用驱铜治疗,对患儿及其一级亲属进行系统检查,以免误诊及漏诊。重视并及时早期诊断,尽早开始治疗是治疗成功的关键。ObjectiveTo explore the clinical features of hepatolenticular degeneration complicated with hemolytic anemia in children.MethodsThe clinical data of 11 cases including blood routine test,blood gas analysis,hepatic function,renal function and ceruloplasmin were analyzed.The ceruloplasmin was also detected in some first degree relatives of the patients.ResultsThe median hemoglobin and reticulocyte were 69g/L and 5.9% respectively,whereas no hypersplenotrophy was found.All the patients had modest hepatomegaly.Both direct and indirect bilirubin were elevated.In contrast with increased AST and GGT,ALT was normal with AST/ALT1.Most patients had secondary Faconi syndrome.Cholecystolithiasis were found in some patients.All the patients were treated with penicillamine and zinc.Seven cases accepted transfusion.ConclusionHepatolenticular degeneration should be considered when patients with hemolytic anemia have a negative result of coombs＇ test and an unbalanced elevation of bilirubin and transaminases with AST/ALT1.It is often associated with tubular dysfunction characterized by hypophosphatemia and hypokalemia.

关 键 词：肝豆状核变性 贫血 溶血性 Fanconi综合征 继发性 

分 类 号：R742.4[医药卫生—神经病学与精神病学]