Renal dysplasia

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.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Immunohistochemistry
  • Kidney / abnormalities*
  • Kidney / metabolism
  • Kidney / surgery
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / metabolism
  • Kidney Diseases / therapy*
  • Nephrectomy
  • PAX2 Transcription Factor / metabolism
  • PAX8 Transcription Factor
  • Paired Box Transcription Factors / metabolism
  • WT1 Proteins / metabolism


  • PAX2 Transcription Factor
  • PAX2 protein, human
  • PAX8 Transcription Factor
  • PAX8 protein, human
  • Paired Box Transcription Factors
  • WT1 Proteins
  • WT1 protein, human