科研之友
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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.
- 出版日期2013-1
