A further case of renal tubular dysgenesis surviving the neonatal period

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.