Inherited endocrinopathies: An update

被引：10

作者：

Lewis, Catherine E. ^{[1
]}

Yeh, Michael W. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Gen Surg, Los Angeles, CA 90095 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 94卷 / 03期

关键词：

multiple endocrine neoplasia type 1 (MEN-1); menin; pancreatic neurcendocrine tumors; multiple endocrine neoplasia type 2 (MEN-2A and MEN-2B); RET; medullary thyroid cancer; pheochromocytoma; von Hippel-Lindau disease (VHL); neurofibromatosis type 1 (NF-1); paraganglioma syndromes; succinate dehydrogenase subunit B and D (SDHB and SDHD);

D O I：

10.1016/j.ymgme.2008.03.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited endocrinopathies, including multiple endocrine neoplasia type 1 (MEN-1), multiple endocrine neoplasia type 2 syndromes (MEN-2A, MEN-2B, familial medullary thyroid carcinoma), and inherited syndromes with pheochromocytoma (von Hippel-Lindau disease, neurofibromatosis type 1, others), comprise a heterogeneous group of cancer susceptibility syndromes that affect one or more components of the endocrine system. During the past several years, novel findings regarding genotype-phenotype correlation have highlighted the importance of establishing a genetic diagnosis in the treatment of these diseases. Here, we present a case-based review of recent advances in the genetics, diagnosis and management of inherited enclocrinopathies. (c) 2008 Elsevier Inc. All rights reserved.

引用

页码：271 / 282

页数：12

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