Autoimmune polyendocrine syndrome type 1: Clinical features and course in France

被引：3
作者：
Wemeau, Jean-Louis [1 ]
Proust-Lemoine, Emmanuelle [1 ]
机构：
[1] CHU Lille, 4E Ouest Hop Claude Huriez, Clin Endocrinol Marc Linquette, F-59037 Lille, France
来源：
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE | 2013年 / 197卷 / 01期
关键词：
POLYENDOCRINOPATHIES; AUTOIMMUNE; CANDIDIASIS; HYPOPARATHYROIDISM; AIRE GENE; AUTOANTIBODIES; CANDIDIASIS; MUTATIONS; TOLERANCE; REGULATOR; THYMUS;
D O I：
10.1016/S0001-4079(19)31623-1
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Nineteen patients with autoimmune polyendocrine syndrome type I were identified in a longitudinal study conducted in northern France (Nord-Picardie-Normandie region, 9 million inhabitants), giving a prevalence of 11500 000 inhabitants. This survey confirmed the usual onset in childhood, and the high frequency of candidiasis, adrenal insufficiency, alopecia and hypoparathyroidism. Broad phenotypic variability was observed, even within a given family. The AIRE gene mutations identified in these patients were closer to those observed in the United Kingdom than in Finland. Preliminary results of an ongoing nationwide survey suggest that the prevalence tends to be higher in the north.
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页码：19 / 30
页数：12
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