ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report

被引:13
作者
Ferreira, M. J. [1 ,2 ,3 ]
Pedro, J. [1 ,2 ,3 ]
Salazar, D. [1 ,2 ,3 ]
Costa, C. [4 ,5 ]
Aragao Rodrigues, J. [5 ]
Costa, M. M. [6 ]
Grangeia, A. [2 ,7 ]
Castedo, J. L. [1 ]
Carvalho, D. [1 ,2 ,3 ]
机构
[1] Ctr Hosp Univ Sao Joao, Dept Endocrinol Diabet & Metab, Porto, Portugal
[2] Univ Porto, Fac Med, Porto, Portugal
[3] Univ Porto, Inst Invest & Inovacao Saude, Porto, Portugal
[4] Portuguese Inst Oncol, Porto, Portugal
[5] Ctr Hosp Univ Sao Joao, Dept Pathol, Porto, Portugal
[6] Hosp Garcia Orta, Dept Endocrinol Diabet & Metab, Porto, Portugal
[7] Ctr Hosp Univ Sao Joao, Dept Genet, Porto, Portugal
关键词
MUTATIONS; GENETICS; RECEPTOR;
D O I
10.1155/2020/8848151
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Primary bilateral adrenal macronodular hyperplasia is characterized by functioning adrenal macronodules and variable cortisol secretion. Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, inarmadillo repeat containing 5 (ARMC5)gene. The identification of the pathogenic variant enables the physician to identify and treat these patients earlier and more effectively. It has also been noticed that patients with germline causative variants show a different clinical spectrum, presenting specific clinical characteristics, as the association with the presence of meningiomas.
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页数:5
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