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Carney complex: an update
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DOI：10.1530/EJE-15-0209.png)
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摘要
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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.
Keyword:
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
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