Carney complex: an update

被引：244

作者：

Correa, Ricardo ^{[1
]}

Salpea, Paraskevi ^{[1
]}

Stratakis, Constantine A. ^{[1
]}

机构：

[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH,Clin Res Ctr, Bethesda, MD 20892 USA

来源：

EUROPEAN JOURNAL OF ENDOCRINOLOGY | 2015年 / 173卷 / 04期

关键词：

PROTEIN-KINASE-A; NODULAR ADRENOCORTICAL DISEASE; PSAMMOMATOUS MELANOTIC SCHWANNOMA; SPOTTY SKIN PIGMENTATION; INCLUDING CARDIAC MYXOMA; EPITHELIOID BLUE NEVUS; SUBUNIT TYPE 1A; ENDOCRINE OVERACTIVITY; REGULATORY SUBUNIT; PRKAR1A GENE;

D O I：

10.1530/EJE-15-0209

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing's syndrome.

引用

页码：M85 / M97

页数：13

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