Abstract:
BACKGROUND:Autoimmune polyendocrine syndrome type I (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge. OBJECTIVE:To screen for APS I among Slovakian patients with sporadic Addison's disease and clinical features that raised the suspicion of APS I. METHODS:All 14 exons and exon-intron boundaries of the AIRE gene were sequenced. In addition, autoantibodies specific for Addison's disease and polyendocrine syndromes were assayed. RESULTS:Using clinical criteria we identified four patients with APS I in three families. Two patients had a novel missense mutation in exon 2 (c.274C>T, p.R92W) and either the Finnish major mutation (c.769C>T) or the common 13 bp deletion (c.967-979del13bp). APS I was diagnosed in a brother of the latter after his death due to an adrenal crisis. A fourth patient had primary adrenal failure and hypoparathyroidism without AIRE mutations or APS-I specific autoantibodies. CONCLUSIONS:Four patients with APS I were found in a Slovakian cohort of Addison patients, although the lack of detectable AIRE mutations and APS I-specific autoantibodies raises uncertainty regarding the pathogenesis in one of the patients. This study demonstrates the merits of screening patients with phenotypic features or autoantibody findings that could indicate APS I, even in adult patients. It is necessary to identify APS I patients in order to provide appropriate treatment and follow-up of the various components of APS I.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
F Magitta N,Pura M,S Bøe Wolff A,Vanuga P,Meager A,M Knappskog P,Husebye ESdoi
10.1530/EJE-07-0843subject
Has Abstractpub_date
2008-05-01 00:00:00pages
705-9issue
5eissn
0804-4643issn
1479-683Xpii
158/5/705journal_volume
158pub_type
杂志文章abstract:OBJECTIVE:Familial isolated primary hyperparathyroidism (FIHP) is defined as hereditary primary hyperparathyroidism without the association of other diseases or tumors. Linkage analyses suggest that different genotypes can lead to the same phenotype of primary hyperparathyroidism. Hereditary syndromes associated with p...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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更新日期:2001-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01842
更新日期:2005-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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pub_type: 杂志文章,多中心研究
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更新日期:2020-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1440139
更新日期:2001-02-01 00:00:00
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doi:10.1530/eje.0.1440291
更新日期:2001-03-01 00:00:00
abstract::Skeletal anabolic agents enhance bone formation, which is determined by the number and function of osteoblasts. Signals that influence the differentiation and function of cells of the osteoblast lineage play a role in the mechanism of action of anabolic agents in the skeleton. Wnts induce the differentiation of mesenc...
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pub_type: 杂志文章,评审
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更新日期:2018-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.1.01810
更新日期:2005-01-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470835
更新日期:2002-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2009-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0188
更新日期:2016-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0279
更新日期:2008-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1440653
更新日期:2001-06-01 00:00:00
abstract::Multiple endocrine neoplasia type 1 (MEN 1) is a familial syndrome characterized by parathyroid, enteropancreatic and pituitary tumors. The gene responsible for this syndrome is localized at chromosomal 11q13 region and DNA markers from this region cosegregate with the disease. The recent identification of the MEN1 ge...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420131
更新日期:2000-02-01 00:00:00
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doi:10.1530/eje.0.1430047
更新日期:2000-07-01 00:00:00
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更新日期:2012-11-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2013-12-21 00:00:00
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更新日期:2005-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2005-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
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更新日期:2019-06-01 00:00:00
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更新日期:2015-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/EJE-07-0259
更新日期:2007-08-01 00:00:00
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更新日期:2007-12-01 00:00:00
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pub_type: 临床试验,杂志文章
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更新日期:2008-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2019-09-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2008-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1300387
更新日期:1994-04-01 00:00:00