Heiberg A
Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo.
Tidsskr Nor Laegeforen. 2001 May 30;121(14):1718-9.
The combination of neonatal intrahepatic cholestasis and lymphoedema in feet and legs is a specific syndrome named after the Norwegian paediatrician Øystein Aagenaes, who described the syndrome in 1968. The condition is autosomal recessively inherited and the gene is located to 15q, but not yet identified. The condition is particularly frequent in the southern most part of Norway and the gene frequency is estimated to be about 3%. The development of small lymphoid vessels is probably deficient around the small biliary tracts and in general. Aagenaes' syndrome is found in patients from other parts of Europe and the US, but more than half of the cases are of Norwegian origin.
新生儿肝内胆汁淤积症与下肢淋巴水肿并存是一种特殊的综合征，以挪威儿科医生厄于斯泰因·奥耶内斯命名，他于1968年描述了该综合征。该病为常染色体隐性遗传，基因位于15号染色体长臂，但尚未确定。这种疾病在挪威最南部尤为常见，基因频率估计约为3%。小淋巴管在小胆管周围及全身的发育可能存在缺陷。欧洲其他地区和美国的患者中也发现了奥耶内斯综合征，但超过半数的病例来自挪威。
