Chen Rui-Yun, Chang Han
From the Department of Pathology, China Medical University Hospital, Taichung, Taiwan; (Drs Chen and Chang); and the College of Medicine, China Medical University, Taichung, Taiwan (Dr Chang).
Arch Pathol Lab Med. 2015 Apr;139(4):547-51. doi: 10.5858/arpa.2013-0660-RS.
Renal dysplasia is an aberrant developmental disease usually diagnosed during the perinatal and childhood years. Prevalence is estimated at 0.1% of infants (via ultrasound screening) and 4% of fetuses and infants (via autopsy study). Occurrences may be combined with abnormalities in the collecting system or associated with complex syndromes. Histopathology shows primitive tubules surrounded by a fibromuscular collar. The differential diagnosis includes renal dysplasia, hypoplasia, and renal atrophy. Immunohistochemical expression of the paired box genes 2 and 8 (PAX2/8) and Wilms tumor 1 (WT1) is increased in the primitive ducts and fibromuscular collar, respectively. Renal dysplasia pathogenesis is not well understood, but may be caused by a nephron-inductive deficit due to ampullary inactivity or abnormal budding of the ureteric bud from the mesonephric duct. Either the PAX2 mutation only or cross-talk with the p53 pathway is involved in this deficit. Nephrectomy is the treatment of choice for symptomatic renal dysplasia.
肾发育异常是一种异常发育性疾病，通常在围产期和儿童期被诊断出来。据估计，其在婴儿中的患病率为0.1%（通过超声筛查），在胎儿和婴儿中的患病率为4%（通过尸检研究）。发病情况可能与集合系统异常合并出现，或与复杂综合征相关。组织病理学显示原始肾小管被纤维肌性环所包围。鉴别诊断包括肾发育异常、发育不全和肾萎缩。配对盒基因2和8（PAX2/8）以及威尔姆斯瘤1（WT1）的免疫组化表达分别在原始导管和纤维肌性环中增加。肾发育异常的发病机制尚未完全明确，但可能是由于壶腹无活性或输尿管芽从中肾管异常出芽导致的肾单位诱导缺陷所致。这种缺陷可能仅涉及PAX2突变，也可能与p53通路相互作用有关。肾切除术是有症状的肾发育异常的首选治疗方法。
