CAJ | 학술논문

原发性色素性结节样肾上腺病(primary pigmentednodularadrenal disease,PPNAD)为常染色体显性遗传.本研究中的患者临床表现为库欣综合征,各项临床指标和病理诊断明确.目前已证实:两个相关基因PRKAR1A和PDE11A突变分别是是导致PPNAD的原因,但本研究结果显示以上两个基因均无突变,提示可能为肾上腺结节病又一类新的发病机制.
원발성색소성결절양신상선병(primary pigmentednodularadrenal disease,PPNAD)위상염색체현성유전.본연구중적환자림상표현위고흔종합정,각항림상지표화병리진단명학.목전이증실:량개상관기인PRKAR1A화PDE11A돌변분별시시도치PPNAD적원인,단본연구결과현시이상량개기인균무돌변,제시가능위신상선결절병우일류신적발병궤제.
Primary pigmented nodular adrenal disease (PPNAD) is a kind of autosomal dominant inherited disease. Patient in the study presented with Cushing's syndrome, and clinical and pathological diagnosis of PPNAD was confirmed. It is now confirmed that there are two relevant genes and their mutations may lead to PPNAD. This study showed no mutations in the patient, surpecting if there would be an alternative mechanism or a new gene in playing the role.