Glucuronic acid conjugation by patients with familial nonhemolytic jaundice and their relatives.
Glucuronic acid conjugation by patients with familial nonhemolytic jaundice and their relatives.
复制标题
家族性非溶血性黄疸患者及其亲属的葡萄糖醛酸结合。
作者：
Barton Childs;J. B. Sidbury;C. Migeon
观察了两名家族性非溶血性黄疸患者及其亲属和其他此类患者使几种物质形成葡糖醛酸结合物的能力。
在一名患者中对4-C14-皮质醇和四氢可的松的生理处置进行的研究表明，还原类固醇与葡萄糖醛酸的结合存在部分缺陷。
1例患者在使用三氯乙醇治疗时出现类似缺陷。该患者的一位父母在相同物质的结合方面表现出较轻度的缺陷;另一位父母的值低于对照组的范围。
使用水杨酸钠的测试对两名患者，他们的父母，三个共同的祖父母和四个兄弟姐妹，以及第三名患者的父母，以及其他三名患者的父母和几个兄弟姐妹进行了测试。同样，患者的葡萄糖醛酸苷结合明显受损，而除了一位父母、两位祖父母和几个同胞兄弟姐妹外，所有患者的葡萄糖醛酸苷结合受损程度介于患者和对照组正常值之间。
患者和许多亲属都表现出比酚型更好的酰基葡萄糖醛酸苷生成能力。
导致该疾病的基因在黄疸方面为隐性，但在供试品的葡糖苷酸结合方面显示不完全显性。
Observations have been made on the capability of two patients with familial nonhemolytic jaundice and the relatives of these and other such patients to make glucuronic acid conjugates of several substances.
Studies of the physiologic disposition of 4-C14-cortisol and of tetrahydrocortisone in one patient demonstrated a partial deficiency in the conjugation of the reduced steroids with glucuronic acid.
One patient showed a like deficiency when treated with trichloroethanol. One parent of this patient showed a milder deficiency in conjugation of the same substance; the value for the other parent was below the range for controls.
Tests using sodium salicylate were carried out with both patients, their parents, three shared grandparents, and four sibs, as well as with both parents of a third patient, and both parents and several sibs of three other patients. Again, the patients showed marked impairment in glucuronide conjugation, while all but one parent, two of the grandparents, and several of the sibs showed an impairment intermediate between that of the patients and the normal values given by the controls.
Both patients and many of the relatives showed a better capability to make acyl glucuronide than the phenolic type.
The gene responsible for this disease is recessive with respect to jaundice, but shows incomplete dominance with respect to glucuronide conjugation of the test substances.