A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A
Endocrinology and Metabolism
;
: 135-141, 2010.
Article
in English
| WPRIM
| ID: wpr-96418
ABSTRACT
Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominant disease that consists of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2A. We describe here a rare case of MEN 2A in a patient who presented with an acute catecholamine-induced cardiomyopathy with cardiogenic shock and acute renal failure. The patient was diagnosed with pheochromocytoma and MTC associated with MEN 2A, which was confirmed by the detection of a RET proto-oncogene mutation at exon 11 on codon 634 (Cys634Arg). During familial screening, the patient's younger sister was found to have a benign thyroid nodule. Re-evaluation of this thyroid nodule revealed MTC with the same gene mutation. We also provide a review of the relevant literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pheochromocytoma
/
Shock, Cardiogenic
/
Proto-Oncogenes
/
Codon
/
Multiple Endocrine Neoplasia
/
Thyroid Neoplasms
/
Mass Screening
/
Exons
/
Thyroid Nodule
/
Germ-Line Mutation
Type of study:
Screening study
Limits:
Humans
Language:
English
Journal:
Endocrinology and Metabolism
Year:
2010
Type:
Article
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