Article
Aldosterone-Producing Adenoma With a Somatic KCNJ5 Mutation Revealing APC-Dependent Familial Adenomatous Polyposis.
The Journal of clinical endocrinology and metabolism - 1 Nov 2016
Vouillarmet Julien, Fernandes-Rosa Fabio, Graeppi-Dulac Julia, Lantelme Pierre, Decaussin-Petrucci Myriam, Thivolet Charles, Peix Jean-Louis, Boulkroun Sheerazed, Clauser Eric, Zennaro Maria-Christina
Abstract excerpt
CONTEXT: Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1, and ATP2B3 have been identified in aldosterone-producing adenomas (APAs). The question as to whether they are responsible for both nodulation and aldosterone production is not solved. CASE DESCRIPTION: We describe the case of a young patient who was diagnosed with severe arterial hypertension due to primary aldosteronism at age 26 years, followed by...
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