Salonen R
Am J Med Genet. 1984 Aug;18(4):671-89. doi: 10.1002/ajmg.1320180414.
A nationwide study on the Meckel syndrome (MS) was carried out covering retrospectively the years 1970-1979 and prospectively the years 1980-1981. Sixty-seven cases from 48 Finnish families were found. The clinical and pathological findings were studied. Cystic dysplasia of the kidneys was present in all the cases where sufficient information was available. In all 41 cases with specimens available from the liver, a typical fibrotic change with proliferation and dilatation of the bile ducts was found. This series and a review of the literature give convincing evidence that cystic dysplasia of the kidneys with fibrosis of the liver is a constant finding in the "true" Meckel syndrome. In conclusion, it is proposed that cystic dysplasia of the kidneys with fibrotic changes of the liver and occipital encephalocele or some other central nervous system malformation are considered as minimal diagnostic criteria of MS. Thus, a histologic investigation of the kidneys and liver is essential in diagnosing MS in doubtful cases. Heterozygote manifestations were not found.
开展了一项关于梅克尔综合征（MS）的全国性研究，回顾性涵盖1970年至1979年，前瞻性涵盖1980年至1981年。从48个芬兰家庭中发现了67例病例。对临床和病理结果进行了研究。在所有有足够信息的病例中均存在肾囊性发育异常。在所有41例有肝脏标本的病例中，均发现了伴有胆管增生和扩张的典型纤维化改变。该系列研究及文献综述提供了令人信服的证据，表明肾囊性发育异常伴肝纤维化是“真性”梅克尔综合征的一个恒定表现。总之，建议将肾囊性发育异常伴肝纤维化改变以及枕部脑膨出或其他一些中枢神经系统畸形视为梅克尔综合征的最低诊断标准。因此，在疑难病例中，对肾脏和肝脏进行组织学检查对于诊断梅克尔综合征至关重要。未发现杂合子表现。
