A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A.
10.3803/EnM.2010.25.2.135
- Author:
Yun Jung LEE
1
;
Suk CHON
;
Sang Ho LEE
;
Tae Won LEE
;
Chun Gyoo IHM
;
Tae June NOH
;
Seungjoon OH
;
Jeong Taek WOO
;
Sung Woon KIM
;
Jin Woo KIM
;
Young Seol KIM
Author Information
1. Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea. jtwoomd@khmc.or.kr
- Publication Type:Case Report
- Keywords:
Multiple endocrine neoplasia type 2A;
RET proto-oncogene;
Pheochromocytoma
- MeSH:
Acute Kidney Injury;
Cardiomyopathies;
Codon;
Exons;
Germ-Line Mutation;
Humans;
Hyperplasia;
Mass Screening;
Multiple Endocrine Neoplasia;
Multiple Endocrine Neoplasia Type 2a;
Pheochromocytoma;
Proto-Oncogenes;
Shock, Cardiogenic;
Siblings;
Thyroid Neoplasms;
Thyroid Nodule
- From:Endocrinology and Metabolism
2010;25(2):135-141
- CountryRepublic of Korea
- Language:English
-
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.
