European Journal of Pediatrics

, 168:207

A further case of renal tubular dysgenesis surviving the neonatal period

  • Mitsugu Uematsu
  • Osamu Sakamoto
  • Toshihiro Ohura
  • Nobuhiko Shimizu
  • Kenichi Satomura
  • Shigeru Tsuchiya
Original Paper

Abstract

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.

Keywords

Renal tubular dysgenesis Angiotensin-converting enzyme Gene mutation Hormonal analysis 

Abbreviations

RTD

Renal tubular dysgenesis

ACE

Angiotensin-converting enzyme

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Mitsugu Uematsu
    • 1
  • Osamu Sakamoto
    • 1
  • Toshihiro Ohura
    • 1
  • Nobuhiko Shimizu
    • 2
  • Kenichi Satomura
    • 2
  • Shigeru Tsuchiya
    • 1
  1. 1.Department of PediatricsTohoku University Graduate School of MedicineSendaiJapan
  2. 2.Department of Pediatric Nephrology and MetabolismOsaka Medical Center and Research Institute for Maternal and Child HealthOsakaJapan

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