Niclasen S D
J Med Genet. 1978 Aug;15(4):296-9. doi: 10.1136/jmg.15.4.296.
A family study of Perthes disease and congenital dislocation of the hip was made in the Faroe Islands, with a population of 40 000. The examination included 1123 sibs and first cousins of 43 probands with Perthes disease, 1942 sibs and first cousins of 59 dislocation probands, and 5205 sibs and first cousins of 172 unaffected matched controls. Both conditions occur with exceptionally high incidences in this population. Thus the incidence of Perthes disease was found to be 41: 10 000 males and 7: 10 000 females, of congenital dislocation of the hip 7: 10 000 males and 59: 10 000 females. These figures are 3 to 4 times higher than those commonly observed in Caucasian populations. Among the 1123 relatives of Perthes probands, we found 10 cases of Perthes disease and 9 cases of dislocation; among the 1942 relatives of dislocation probands, there were 11 cases of Perthes disease and 23 cases of dislocation. Thus both disorders show an accumulation within the same families. On the other hand among the 5205 relatives of probands selected because the hips were unaffected, we found only 3 cases of Perthes disease and 10 cases of dislocation. Considering the conspicuously low familial accumulation of Perthes disease seen in a low-risk population elsewhere (South Wales), the high incidence of the two disorders and the simultaneously strong intrafamilial accumulation in the Faroe population seem to indicate that the search for exogenous influences, specific to this area, should be intensified.
在法罗群岛(人口4万)开展了一项关于佩特兹病和先天性髋关节脱位的家族研究。检查对象包括43例佩特兹病先证者的1123名同胞和一级表亲、59例脱位先证者的1942名同胞和一级表亲,以及172名未受影响的匹配对照的5205名同胞和一级表亲。这两种疾病在该人群中的发病率都异常高。因此,发现佩特兹病的发病率为男性41∶10000,女性7∶10000;先天性髋关节脱位的发病率为男性7∶10000,女性59∶10000。这些数字比在白种人群中通常观察到的数字高3至4倍。在佩特兹病先证者的1123名亲属中,我们发现了10例佩特兹病和9例脱位;在脱位先证者的1942名亲属中,有11例佩特兹病和23例脱位。因此,这两种疾病在同一家族中都有聚集现象。另一方面,在因髋关节未受影响而挑选的先证者的5205名亲属中,我们仅发现3例佩特兹病和10例脱位。鉴于在其他地方(南威尔士)的低风险人群中观察到佩特兹病明显较低的家族聚集性,这两种疾病的高发病率以及法罗群岛人群中同时存在的强烈家族内聚集现象似乎表明,应加强对该地区特有的外部影响因素的研究。