title: Renal dysplasia.
abstract: 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.
authors.affiliation: 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).
authors.forename: Rui-Yun
authors.initials: RY
authors.lastname: Chen
authors.forename: Han
authors.initials: H
authors.lastname: Chang
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000002:abnormalities* / Q000378:metabolism / Q000601:surgery; D007674:Kidney Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D009392:Nephrectomy; D051762:PAX2 Transcription Factor / Q000378:metabolism; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000378:metabolism; D025721:WT1 Proteins / Q000378:metabolism
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; D025721:WT1 Proteins; C583751:WT1 protein, human