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Arquivos Brasileiros de Endocrinologia & Metabologia

On-line version ISSN 1677-9487

Abstract

DORA, José Miguel et al. Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A. Arq Bras Endocrinol Metab [online]. 2008, vol.52, n.8, pp.1332-1336. ISSN 1677-9487.  http://dx.doi.org/10.1590/S0004-27302008000800021.

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo. Rarely, MEN2A is recognized during the search for PHT associated conditions. Most patients with primary hyperparathyroidism are asymptomatic, and the focus of the presentation may be the side effects of chronic hypercalcemia, osteoporosis, renal lithiasis, peptic ulcer disease, and hypertension. Hypercalcemic pancreatitis is rare, being an uncommon first manifestation of PHT. Here, we report on a patient who presented recurrent pancreatitis as the first manifestation of MEN2A. In the present case, prompt sequential dosage of calcium, diagnosis of PHT, and genetic analysis would have resulted in pancreatitis prevention and early MEN2A management.

Keywords : Pancreatitis; Multiple endocrine neoplasia type 2; Primary hyperparathyroidism; Medullary thyroid carcinoma; Molecular diagnosis.

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