A further case of renal tubular dysgenesis surviving the neonatal period |
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Authors: | Mitsugu Uematsu Osamu Sakamoto Toshihiro Ohura Nobuhiko Shimizu Kenichi Satomura Shigeru Tsuchiya |
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Institution: | (1) Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan;(2) Department of Pediatric Nephrology and Metabolism, Osaka Medical Center and Research Institute for Maternal and Child Health, 840, Murodo-cho, Izumi, Osaka, Japan |
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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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Keywords: | Renal tubular dysgenesis Angiotensin-converting enzyme Gene mutation Hormonal analysis |
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