Genetic diagnosis on one case of primary pigmented nodular adrenal disease
10.3760/cma.j.issn.1000-6699.2011.03.011
- VernacularTitle:基因技术辅助诊断原发性色素性结节样肾上腺病一例
- Author:
Jie ZHU
;
Xiaolong JIN
;
Sheng ZHENG
;
Yi JIANG
;
Huanqing FENG
;
Haohui CHEN
;
Chengwen LU
;
Bin CUI
;
Xiaoying LI
;
Guang NING
- Publication Type:Journal Article
- Keywords:
Genetic diagnosis;
Primary pigmented nodular adrenal disease
- From:
Chinese Journal of Endocrinology and Metabolism
2011;27(3):231-233
- CountryChina
- Language:Chinese
-
Abstract:
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.
