A further case of renal tubular dysgenesis surviving the neonatal period

Mitsugu Uematsu, Osamu Sakamoto, Toshihiro Ohura, Nobuhiko Shimizu, Kenichi Satomura, Shigeru Tsuchiya

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


Renal tubular dysgenesis is a critical disorder characterized by the Potter phenotype and severe hypotension in the early neonatal period. We herein report a 3-year-old female with renal tubular dysgenesis. Endocrinological studies showed a high plasma renin activity (over 49.2 ng/ml/h; normal range 2.0-15.2), high active renin concentration (1,823.5 pg/ml; normal range 2.4-21.9), and low angiotensin-converting enzyme (ACE) concentration (1.7 U/l; normal range 8.3-21.4). Taken together, these findings suggested an abnormality of the ACE gene, ACE. Direct sequencing analysis revealed two novel deletions in the coding region of ACE. We conclude that hormonal analysis of the renin-angiotensin system can aid in identifying the responsible genes and help with efficient gene analysis and pathophysiological considerations.

Original languageEnglish
Pages (from-to)207-209
Number of pages3
JournalEuropean Journal of Pediatrics
Issue number2
Publication statusPublished - 2009 Feb


  • Angiotensin-converting enzyme
  • Gene mutation
  • Hormonal analysis
  • Renal tubular dysgenesis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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