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爱尔兰人群中家族性结节病的高患病率。

High prevalence of familial sarcoidosis in an Irish population.

作者信息

Brennan N J, Crean P, Long J P, Fitzgerald M X

出版信息

Thorax. 1984 Jan;39(1):14-8. doi: 10.1136/thx.39.1.14.

Abstract

Previous studies in the Republic of Ireland have demonstrated a high national prevalence of sarcoidosis. Observations in our sarcoid clinic suggested a high prevalence of the disease among siblings and prompted a survey to quantify this phenomenon. The study group comprised 114 index patients with biopsy proved sarcoidosis and a total sibling pool of 534 individuals. Eleven of the index patients (9.6%) were found to have at least one sibling with sarcoidosis. Of the 13 siblings thus identified, eight had biopsy proof of the disease, while the remaining five showed highly suggestive clinical and radiological evidence of sarcoidosis. There was no significant difference in the mode of presentation between the sibling pairs or between familial and non-familial cases and there was an equal distribution of like sex and unlike sex pairs. In only two instances was the temporal profile of onset of the disease suggestive of intrafamilial spread of a transmissible agent. The high prevalence of sarcoidosis among siblings reported here (2.4%) suggests that genetic factors significantly predispose to the development of sarcoidosis and that family members of affected patients should be screened for this disease.

摘要

爱尔兰共和国之前的研究表明结节病在全国的患病率很高。我们结节病诊所的观察结果显示,该病在兄弟姐妹中患病率很高,这促使我们进行一项调查以量化这一现象。研究组包括114例经活检证实患有结节病的索引患者以及总共534名兄弟姐妹。11例索引患者(9.6%)被发现至少有一个患有结节病的兄弟姐妹。在由此确定的13名兄弟姐妹中,8例有该病的活检证据,其余5例显示出结节病高度提示性的临床和放射学证据。兄弟姐妹对之间或家族性与非家族性病例之间的表现方式没有显著差异,同性和异性对的分布也相等。仅在两例中,疾病发作的时间特征提示存在可传播病原体的家族内传播。此处报告的兄弟姐妹中结节病的高患病率(2.4%)表明,遗传因素是结节病发病的重要易患因素,患病患者的家庭成员应接受该病筛查。

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Thorax. 2000 Sep;55(9):751-4. doi: 10.1136/thorax.55.9.751.

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