Aagenaes O, Medbø S
Barneavdelingen, Aker sykehus, Oslo.
Tidsskr Nor Laegeforen. 1993 Dec 10;113(30):3673-7.
Hereditary intrahepatic cholestasis with lymph oedema is now a well defined autosomal recessive inherited syndrome. More than 75% of the known cases (about 40) are Norwegian, and most of these came from a few communities in the south-western part of Norway. Cholestasis is present prior to or shortly after birth. With modern treatment the cholestasis usually improves considerably during the first two years of life, but periods of recurrent cholestasis occur later. In some cases, lymph oedema is present at birth, but usually comes to light during childhood. Lymph oedema needs continuous treatment. As a rule, the prognosis for the liver disease is good, but cirrhosis has developed in about 15% of the Norwegian cases. As for the pathogenesis of the cholestasis, the hypothesis is that the cause is an anomaly of the lymph function.
遗传性肝内胆汁淤积伴淋巴水肿是一种现已明确的常染色体隐性遗传综合征。已知病例（约40例）中超过75%是挪威人，其中大多数来自挪威西南部的几个社区。胆汁淤积在出生前或出生后不久出现。采用现代治疗方法，胆汁淤积通常在生命的头两年会有显著改善，但后期会出现胆汁淤积复发期。在某些情况下，淋巴水肿在出生时就存在，但通常在儿童期才显现出来。淋巴水肿需要持续治疗。一般来说，肝脏疾病的预后良好，但在挪威的病例中约15%已发展为肝硬化。至于胆汁淤积的发病机制，推测其病因是淋巴功能异常。
