Renal tubular dysgenesis with hypoplastic calvaria: Report of two cases

Erdogan S. , KACAR A., YILMAZER A., Satar M. , TUNALI N.

GENETIC COUNSELING, vol.15, no.3, pp.335-339, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 3
  • Publication Date: 2004
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.335-339


Renal tubular dysgenesis with hypoplastic calvaria: report of two cases: Renal tubular dysgenesis (RTD), a rare, lethal, autosomal recessive disorder, is characterized by short and poorly differentiated proximal tubules and associated with hypoplastic calvaria. We report two cases of RTD with hypoplasia of the calvaria. Microscopically, proximal tubules in the kidneys were not seen on routine H&E stain. Almost all tubules in the cortex were stained for epithelial membrane antigen (EMA), confirming the absence of proximal tubule differentiation. The autopsy findings, microscopic features and the etiology of this rare condition is discussed and compared with literature data.