...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>The East African medical journal >Galactosaemia in black South African children.
【24h】

Galactosaemia in black South African children.

机译：南非黑人儿童的半乳糖血症。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

OBJECTIVE: To evaluate the clinical and biochemical features of all black children confirmed to have galactosaemia from the KwaZulu Natal Province of South Africa. DESIGN: Prospective laboratory study. SUBJECTS: These included all black children with the presenting clinical features suggestive of the diagnosis of galactosaemia. SETTING: Department of Chemical Pathology, King Edward VIII Hospital, Durban, South Africa. METHOD: In each case, urine was screened for the presence of a reducing substance using urinary dipstick followed by thin layer chromatography to establish the presence of galactosaemia. The diagnosis of galacotosaemia was then confirmed by analysis of galactose-1 phosphate uridyl transferase (GALT) activity in the erythrocytes using the established Beutler enzyme assay procedure. Age and sex-matched samples were used as controls for GALT activity. The presenting clinical features of each patient on admission were also recorded. INTERVENTIONS: Patients confirmed to have galactosaemia were immediately placed on a galactose free diet. RESULTS: The age distribution of affected individuals varied from six weeks to 27 months with 60% of the children being males. The most common presenting clinical features were jaundice in 77% of the patients, failure to thrive 62%, and cataracts 54%. Four patients had complete absence of GALT activity. Two infants who displayed acute toxicity symptoms and positive urine galactose, exhibited normal GALT activity. CONCLUSION: GALT deficiency is the most common form of galactosaemia in black children in the KwaZulu Natal region. Cases of galactokinase or epimerase enzyme deficiency appear to be present. Further investigation is required to establish the occurrence and prevalence of the latter in affected individuals in this region.
机译：目的：评估南非夸祖鲁纳塔尔省所有确诊为半乳糖血症的黑人儿童的临床和生化特征。设计：前瞻性实验室研究。受试者：包括所有表现出暗示半乳糖血症的临床特征的黑人儿童。地点：南非德班爱德华国王八世医院化学病理学系。方法：在每种情况下，先使用尿液试纸对尿液中的还原性物质进行筛查，然后进行薄层色谱法确定半乳糖血症的存在。然后，通过使用已建立的Beutler酶测定程序，通过分析红细胞中的半乳糖1磷酸半胱氨酸尿苷基转移酶（GALT）活性，确认了丙酸菌血症的诊断。年龄和性别匹配的样品用作GALT活性的对照。还记录了每位患者入院时的临床表现。干预措施：确定患有半乳糖血症的患者应立即接受无半乳糖饮食。结果：受影响个体的年龄分布从六周到27个月不等，其中60％的孩子是男性。目前最常见的临床特征是77％的患者出现黄疸、,壮失败62％，白内障54％。 4名患者完全没有GALT活性。表现出急性毒性症状和尿中半乳糖阳性的两名婴儿表现出正常的GALT活性。结论：Gwa缺乏症是夸祖鲁纳塔尔地区黑人儿童最常见的半乳糖血症形式。似乎存在半乳糖激酶或差向异构酶缺乏症的病例。需要进一步调查以确定后者在该地区受影响个体中的发生和流行。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号