【摘 要】
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Primary pigmented nodular adrenocortical disease (PPNAD), found in the mid 1980s, is a rare type of ACTH-independent hypercortisolism,can be part of Carney comp
【机 构】
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Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, Shanghai 200025, China
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Primary pigmented nodular adrenocortical disease (PPNAD), found in the mid 1980s, is a rare type of ACTH-independent hypercortisolism,can be part of Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac myxomas and endocrine tumors. One of the putative CNC genes,located on 17q22-24, has been identified as the regulatory subunit R1A of protein kinase A (PRKAR1A). Patients with isolated PPNAD and no familial history of CNC can also present a germline de novo mutation of PRKAR1A. In China, five patients with PPNAD underwent surgical treatment in our department from 2001 to August 2004.1
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