摘要
报道6例迟发型21-羟化酶缺乏症(LOAH)患者临床资料。其中4例患者的17-羟孕酮(17-OHP)和ACTH刺激后的17-OHP水平明显升高,都有C4零基因。家系A中患者的母亲和姐姐无症状,但17-OHP水平升高或对ACTH反应增强,该家系患者有A2-B40-Cw3-DR9,及A33-B17-Cw2-DR3单体型,与白种人不同。家系B全体成员的HLA表型相同,但只1人患病。其他成员对ACTH反应增高。
Six cases were diagnosed as late onset adrenal hyperplasia (LOAH) by clinical manifestations, hormone levels and diagnostic tests. The results of HLA typing (class Ⅰ and Ⅱ), complotype and ACTH stimulation test on 4 cases and 10 normal members of 3 families in Hunan Province were presented. In 4 cases, HLA-typing revealed their haplotype A_2-B_(40)-Cw_3-DR_9 different from Caucasian; their complotype displayed C_4 nuil genes and the results of their ACTH stimulation test were characterized by significantly elevated basal plasma levels of 17-hydroxyprogesterone (17-OHP).In family A, the patient's sister and mother appeared asymptomatic but had elevated 17-OHP level in plasma or exaggerated response to ACTH stimulation. In family B, 4 members were asymptomatic, but they had increased response to ACTH significantly. It is possible that this asymptomatic appearance with such abnormal biochemical assay results may be due to mild mutation of 21-hydroxylase genes. Further study in this connection is hence worth while.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第1期15-18,共4页
Chinese Journal of Medical Genetics
关键词
羟化酶缺乏症
人白细胞抗原
肾上腺
21-Hydroxylase deficiency HLA antigens Complement 4 17-hy droxyprogesterone ACTH stimulation test
