European Journal of Pediatrics

, 168:207

A further case of renal tubular dysgenesis surviving the neonatal period

Authors

    • Department of PediatricsTohoku University Graduate School of Medicine
  • Osamu Sakamoto
    • Department of PediatricsTohoku University Graduate School of Medicine
  • Toshihiro Ohura
    • Department of PediatricsTohoku University Graduate School of Medicine
  • Nobuhiko Shimizu
    • Department of Pediatric Nephrology and MetabolismOsaka Medical Center and Research Institute for Maternal and Child Health
  • Kenichi Satomura
    • Department of Pediatric Nephrology and MetabolismOsaka Medical Center and Research Institute for Maternal and Child Health
  • Shigeru Tsuchiya
    • Department of PediatricsTohoku University Graduate School of Medicine
Original Paper

DOI: 10.1007/s00431-008-0743-9

Cite this article as:
Uematsu, M., Sakamoto, O., Ohura, T. et al. Eur J Pediatr (2009) 168: 207. doi:10.1007/s00431-008-0743-9

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 dysgenesisAngiotensin-converting enzymeGene mutationHormonal analysis

Abbreviations

RTD

Renal tubular dysgenesis

ACE

Angiotensin-converting enzyme

Copyright information

© Springer-Verlag 2008