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A further case of renal tubular dysgenesis surviving the neonatal period

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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.

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Abbreviations

RTD:

Renal tubular dysgenesis

ACE:

Angiotensin-converting enzyme

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Authors and Affiliations

  1. Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan

    Mitsugu Uematsu, Osamu Sakamoto, Toshihiro Ohura & Shigeru Tsuchiya

  2. Department of Pediatric Nephrology and Metabolism, Osaka Medical Center and Research Institute for Maternal and Child Health, 840, Murodo-cho, Izumi, Osaka, Japan

    Nobuhiko Shimizu & Kenichi Satomura

Authors
  1. Mitsugu Uematsu
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  2. Osamu Sakamoto
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  3. Toshihiro Ohura
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  4. Nobuhiko Shimizu
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  5. Kenichi Satomura
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  6. Shigeru Tsuchiya
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Correspondence to Mitsugu Uematsu.

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Uematsu, M., Sakamoto, O., Ohura, T. et al. A further case of renal tubular dysgenesis surviving the neonatal period. Eur J Pediatr 168, 207–209 (2009). https://doi.org/10.1007/s00431-008-0743-9

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  • DOI: https://doi.org/10.1007/s00431-008-0743-9

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