A further case of renal tubular dysgenesis surviving the neonatal period View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-02

AUTHORS

Mitsugu Uematsu, Osamu Sakamoto, Toshihiro Ohura, Nobuhiko Shimizu, Kenichi Satomura, Shigeru Tsuchiya

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. More... »

PAGES

207

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00431-008-0743-9

DOI

http://dx.doi.org/10.1007/s00431-008-0743-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034661069

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18478260


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