Department of Pathology, Indiana University, 702 Barnhill Dr., Rm. 2536, Indianapolis, IN 46202, USA.
Pediatr Nephrol. 2011 Oct;26(10):1893-6. doi: 10.1007/s00467-011-1910-1. Epub 2011 May 21.
Cystic renal dysplasia is a common developmental abnormality of fetal kidney, featuring disorganized lobar organization, undifferentiated mesenchyma, metaplastic cartilage, persisting immature collecting ducts, and cystic changes. Cystic renal dysplasia can affect the entire kidney or in a segmental fashion. Squamous cysts within the dysplastic kidney, however, are exceedingly rare; only two cases have been reported in the English literature, dating back about 25 years.
This report is, to our knowledge, the second to describe this unusual finding and may be viewed as confirmation of the entity. In the two previous cases, squamous cysts arose in a generalized cystic dysplasia background; the one we are reporting instead happened in a case of segmental cystic renal dysplasia.
We further proved, with fluorescent in situ hybridization (FISH), the negativity of 12p amplification in this lesion, supporting the notion that this lesion is not intrarenal teratomatous in nature.
囊性肾发育不良是胎儿肾脏的一种常见发育异常，表现为小叶组织紊乱、未分化的间充质、化生软骨、持续存在不成熟的集合管和囊性改变。囊性肾发育不良可以影响整个肾脏或呈节段性。然而，发育不良肾脏内的鳞状囊肿极为罕见；仅在 25 年前的英文文献中报告了两例。
据我们所知，本报告是第二次描述这种不寻常的发现，可以视为对该实体的确认。在前两例中，鳞状囊肿出现在弥漫性囊性发育不良的背景下；我们报告的这例则发生在节段性囊性肾发育不良中。
我们通过荧光原位杂交（FISH）进一步证明了该病变中 12p 扩增的阴性，支持了该病变本质上不是肾内畸胎瘤的观点。
