首次就诊病因包括新生儿黄疸延长（５／１０，５０％）、转氨酶升高（２／１０，２０％）、体检（２／１０，２０％）和肺炎（１／１０，１０％）。所有患儿确诊时血清ＴＢＡ水平均明显升高；ＡＬＴ、ＡＳＴ水平升高２例；ＴＢｉｌ水平升高１例，且以ＤＢｉｌ水平升高为主（ＤＢｉｌ／ＴＢｉｌ＞５０％）。经第二代...
homologous transporters are involved in the reabsorption of bile acids, one absorbing from the intestinal lumen, the bile duct, and the kidney with an apical localization(SLC10A2; MIM 601295), and the other being found in the basolateral membranes of hepatocytes (SLC10A1).[supplied by OMIM] ...
类孟德尔遗传数据库(OMIM,.ncbi.nlm.nih.gov/omim)对基因对应的疾病及 遗传方式、HGMDpro数据库收录情况进行比对,按照美国医学遗传学和基因组 学会(ACMG)遗传变异分类标准指南[8]对新突变分级。 2 结果 . 2.1 一般资料 10例患儿均来自不同的家庭,按就诊时间排序编号P1～P10,其 ...
It has been known that mutations in at least 10 genes involved in BA metabolism can cause serious diseases associated with hypercholanemia (such as progressive intrahepatic cholestasis) (Online Mendelian Inheritance in Man, OMIM http://www.ncbi.nlm.nih.gov/omim and literature7). However, whether...