Bernstein J, Brough A J, McAdams A J
Birth Defects Orig Artic Ser. 1974;10(4):35-43.
Renal malformations in cerebrohepatorenal and the Jeune syndromes are variable, encompassing both focal cystic change and severe cystic dysplasia. Morphologic differences might reflect either genetic heterogeneity or injury to the kidney by an underlying metabolic defect at differing times in renal development. The renal lesion in the Meckel syndrome is cystic dysplasia with markedly defective nephronic differentiation. A histologically distinctive cystic tubular lesion is identified in tuberous sclerosis. These lesions must be differentiated from infantile and adult polycystic disease.
脑肝肾综合征和热纳综合征中的肾脏畸形各不相同，包括局灶性囊性改变和严重的囊性发育异常。形态学差异可能反映了基因异质性，或者是在肾脏发育的不同时期，潜在的代谢缺陷对肾脏造成的损伤。梅克尔综合征中的肾脏病变是囊性发育异常，伴有明显的肾单位分化缺陷。在结节性硬化症中可发现一种组织学上独特的囊性肾小管病变。这些病变必须与婴儿型和成人型多囊肾病相鉴别。
