Karhunen P J, Tenhu M
Clin Genet. 1986 Jul;30(1):29-37. doi: 10.1111/j.1399-0004.1986.tb00565.x.
In 22 cases of either adult polycystic liver (PLD) or polycystic kidney (APCD) disease, considered as one dominantly inherited entity, both diseases occurred together only once. Early microscopical cystic lesions that are typical of PLD were found in another case of APCD. In this medicolegal autopsy series the incidence of PLD was 0.05% and that of APCD 0.08%. Cerebral haemorrhage or cerebral aneurysms were found in 50% of APCD cases but in none of the cases with only PLD (p less than 0.01). Of the cases with PLD, 50% had associated renal cysts and 10% of the cases with APCD had associated liver cysts. The same medicolegal autopsy material yielded a prospective series of 95 male cases, where, however, kidney cysts were normally present in over 50% and liver cysts in about 20% of the cases of similar age. Thus, a part of the association between cystic disease of the liver and kidney may have been based on the common occurrence of cysts in old age. V. Meyenburg's complex was the microscopic alteration associated with cysts in PLD. It was associated as well with liver cysts in APCD suggesting that an intricate relation between PLD and APCD does occur in part of the cases, in this series characterized by large size APCD kidneys. The results indicate that in adults PLD is an entity of its own, expressed in most of the cases independently of APCD.
在22例被视为单一显性遗传实体的成人多囊肝（PLD）或多囊肾（APCD）疾病中，两种疾病仅同时出现过一次。在另一例APCD病例中发现了PLD典型的早期显微镜下囊性病变。在这个法医尸检系列中，PLD的发病率为0.05%，APCD的发病率为0.08%。50%的APCD病例发现有脑出血或脑动脉瘤，但仅患有PLD的病例中均未发现（p小于0.01）。在患有PLD的病例中，50%伴有肾囊肿，在患有APCD的病例中，10%伴有肝囊肿。同一法医尸检材料产生了一个95例男性的前瞻性系列，然而，在年龄相仿的病例中，超过50%的病例通常存在肾囊肿，约20%的病例存在肝囊肿。因此，肝肾囊性疾病之间的部分关联可能是基于老年时囊肿的共同出现。V. Meyenburg复合体是与PLD囊肿相关的微观改变。它也与APCD中的肝囊肿相关，这表明在部分病例中PLD和APCD之间确实存在复杂的关系，在本系列中以APCD肾脏体积大为特征。结果表明，在成年人中，PLD是一个独立的实体，在大多数情况下其表现独立于APCD。
