Landing B H, Wells T R, Claireaux A E
Hum Pathol. 1980 Sep;11(5 Suppl):549-60.
Morphometric analysis of the liver lesions in patients with various forms of cystic disease of the liver in childhood demonstrates that the entities called the congenital, perinatal, and infantile forms of polycystic disease produce the same liver lesion. The data suggest that these entities are actually the same disorder, for which the name infantile polycystic disease (of the liver and kidneys) is recommended. In all patients with this autosomal recessive disorder there is involvement of both the liver and the kidneys, and patients present with hepatonephromegaly at birth or in early infancy. Similarly, the entity called the juvenile form of polycystic disease produces the same liver lesion as does the disease to which the term congenital hepatic fibrosis has been applied to describe patients presenting in later childhood with portal hypertension. The latter name is recommended to distinguish this condition from infantile polycystic disease. Nephromegaly is not a feature of this also autosomal recessive disease, but renal insufficiency, progressing slowly through later childhood and adolescence, is. The hepatic lesions of infantile polycystic disease and congenital hepatic fibrosis differ from those of other disorders causing cystic lesions of the liver and kidneys, either regularly (Meckel's syndrome, Jeune's syndrome) or variably (vaginal atresia syndrome, tuberous sclerosis, medullary cystic disease).
对儿童期各种形式的肝囊性疾病患者肝脏病变的形态计量学分析表明，所谓的先天性、围生期和婴儿型多囊性疾病产生相同的肝脏病变。数据表明，这些实体实际上是同一种疾病，建议将其命名为（肝和肾的）婴儿型多囊性疾病。在所有患有这种常染色体隐性疾病的患者中，肝脏和肾脏都会受累，患者在出生时或婴儿早期就会出现肝脾肿大。同样，所谓的青少年型多囊性疾病产生的肝脏病变与应用先天性肝纤维化一词描述的疾病相同，后者用于描述儿童后期出现门静脉高压的患者。建议使用后一个名称来将这种情况与婴儿型多囊性疾病区分开来。肾肿大不是这种同样为常染色体隐性疾病的特征，但肾功能不全是，它在儿童后期和青春期缓慢进展。婴儿型多囊性疾病和先天性肝纤维化的肝脏病变与其他导致肝和肾囊性病变的疾病不同，这些疾病要么是规律性的（梅克尔综合征、热内综合征），要么是多变的（阴道闭锁综合征、结节性硬化症、髓质囊性疾病）。
