A further case of renal tubular dysgenesis surviving the neonatal period.

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.

journal_name

Eur J Pediatr

authors

Uematsu M,Sakamoto O,Ohura T,Shimizu N,Satomura K,Tsuchiya S

doi

10.1007/s00431-008-0743-9

subject

Has Abstract

pub_date

2009-02-01 00:00:00

pages

207-9

issue

2

eissn

0340-6199

issn

1432-1076

journal_volume

168

pub_type

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