Background and Aims:Cloning of ATP7B provided evidence that Wilson's disease is a hepatic copper toxicosis with a variety of extrahepatic complications.Affected siblings with the same genetic background and exposu...Background and Aims:Cloning of ATP7B provided evidence that Wilson's disease is a hepatic copper toxicosis with a variety of extrahepatic complications.Affected siblings with the same genetic background and exposure to similar environmental factors may be a good model for the study of genotype-phenotype correlation.Methods:Twenty-three affected siblings in 11 families were selected from a database.The first phenotypes were determined according to the international proposal.The final types of chronic organ damage were re-evaluated for life-long management.Results:Phenotypes were identical in 5 of the families and different in 6 of the families.The acute hepatic phenotype H1 was found in 3 younger siblings and 1 older sibling.All survived an acute episode of hemolysis with underlying chronic liver disease.One also presented complication with neurological disease.The neurological phenotype N1 with neuropsychiatric symptoms and hepatic disease was found in 2 aged siblings of 1 family,in an older sibling in 3 families and in the oldest sibling in 1 family.Phenotypes in siblings were mainly split by either H1 occurring in random order or age-dependent N1.Types of chronic organ damage were identical in 8 of the families and different in 3 of the families.The same combination of chronic liver disease was found in 6 families and chronic liver disease complicated with neurological disease in 2 families.Split organ damage in siblings was found when an older sibling was complicated by neurological disease.There was no reverse combination of a younger sibling being complicated by neurological disease in any of the families.Conclusion:Phenotype combinations of siblings were mainly modified by externally-induced hemolytic episodes,while chronic organ damage in siblings was split by age-dependent neurological complications.展开更多
随着医疗技术水平的提升,感染导致新生儿黄疸的比例逐渐降低,有研究报道,感染患儿的比例已经降至9.4%,溶血及未知原因是导致新生儿黄疸的主要病因[1]。并且高胆红素血症新生儿产生新生儿溶血病(hemolytic disease of the newborn,HDN)...随着医疗技术水平的提升,感染导致新生儿黄疸的比例逐渐降低,有研究报道,感染患儿的比例已经降至9.4%,溶血及未知原因是导致新生儿黄疸的主要病因[1]。并且高胆红素血症新生儿产生新生儿溶血病(hemolytic disease of the newborn,HDN)阳性率较高[2]。展开更多
目的：分析孕妇血型及抗体筛查与新生儿溶血病的相关性。方法测定孕妇的 ABO 血型及Rh（D）血型，筛查不规则抗体。对有黄疸症状的新生儿进行血型血清学和溶血病检测。结果2032例 O 型孕妇，其丈夫为非 O 型；新生儿发生溶血病152例。2...目的：分析孕妇血型及抗体筛查与新生儿溶血病的相关性。方法测定孕妇的 ABO 血型及Rh（D）血型，筛查不规则抗体。对有黄疸症状的新生儿进行血型血清学和溶血病检测。结果2032例 O 型孕妇，其丈夫为非 O 型；新生儿发生溶血病152例。2032例非 O 型孕妇，发生新生儿溶血病4例。两组差异有统计学意义（χ^2＝135．4，P ＜0．01）。RhD 阴性27例，其丈夫均为 RhD 阳性，发生新生儿溶血病5例。检出孕妇血清中存在不规则抗体11例，发生新生儿溶血病4例。结论孕妇的血型及不规则抗体与新生儿发生溶血病密切相关，故孕期检查应将血型鉴定和不规则抗体筛查作为常规项目，预防母婴血型不合导致的新生儿溶血。展开更多
文摘Background and Aims:Cloning of ATP7B provided evidence that Wilson's disease is a hepatic copper toxicosis with a variety of extrahepatic complications.Affected siblings with the same genetic background and exposure to similar environmental factors may be a good model for the study of genotype-phenotype correlation.Methods:Twenty-three affected siblings in 11 families were selected from a database.The first phenotypes were determined according to the international proposal.The final types of chronic organ damage were re-evaluated for life-long management.Results:Phenotypes were identical in 5 of the families and different in 6 of the families.The acute hepatic phenotype H1 was found in 3 younger siblings and 1 older sibling.All survived an acute episode of hemolysis with underlying chronic liver disease.One also presented complication with neurological disease.The neurological phenotype N1 with neuropsychiatric symptoms and hepatic disease was found in 2 aged siblings of 1 family,in an older sibling in 3 families and in the oldest sibling in 1 family.Phenotypes in siblings were mainly split by either H1 occurring in random order or age-dependent N1.Types of chronic organ damage were identical in 8 of the families and different in 3 of the families.The same combination of chronic liver disease was found in 6 families and chronic liver disease complicated with neurological disease in 2 families.Split organ damage in siblings was found when an older sibling was complicated by neurological disease.There was no reverse combination of a younger sibling being complicated by neurological disease in any of the families.Conclusion:Phenotype combinations of siblings were mainly modified by externally-induced hemolytic episodes,while chronic organ damage in siblings was split by age-dependent neurological complications.
文摘目的：分析孕妇血型及抗体筛查与新生儿溶血病的相关性。方法测定孕妇的 ABO 血型及Rh（D）血型，筛查不规则抗体。对有黄疸症状的新生儿进行血型血清学和溶血病检测。结果2032例 O 型孕妇，其丈夫为非 O 型；新生儿发生溶血病152例。2032例非 O 型孕妇，发生新生儿溶血病4例。两组差异有统计学意义（χ^2＝135．4，P ＜0．01）。RhD 阴性27例，其丈夫均为 RhD 阳性，发生新生儿溶血病5例。检出孕妇血清中存在不规则抗体11例，发生新生儿溶血病4例。结论孕妇的血型及不规则抗体与新生儿发生溶血病密切相关，故孕期检查应将血型鉴定和不规则抗体筛查作为常规项目，预防母婴血型不合导致的新生儿溶血。
