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Antenatal Bartter's syndrome: why is this not a lethal condition?

Authors :
S. Cheema-Dhadli
P. Wildgoose
Detlef Bockenhauer
M. L. Halperin
L. F. Halperin
C. K. Chong
N. Nukiwa
M. Cruwys
Mogamat Razeen Davids
Tomokazu Souma
K. S. Kamel
Robert Kleta
Source :
QJM. 101:927-942
Publication Year :
2008
Publisher :
Oxford University Press (OUP), 2008.

Abstract

There are four themes in this teaching exercise for Professor McCance. The first challenge was to explain how a premature infant with Bartter's syndrome could survive despite having such a severe degree of renal salt wasting. Second, the medical team wanted to know why there was such a dramatic decrease in the natriuresis in response to therapy, despite the presence of a permanent molecular defect that affected the loop of Henle. Third, Professor McCance was asked why this patient seemed to have a second rare disease, AQP2 deficiency type of nephrogenic diabetes insipidus. The fourth challenge was to develop a diagnostic test to help the parents of this baby titrate the dose of indomethacin to ensure an effective dose while minimizing the likelihood of developing nephrotoxicity. The missing links in this interesting story emerge during a discussion between the medical team and its mentor.

Details

ISSN :
14602393 and 14602725
Volume :
101
Database :
OpenAIRE
Journal :
QJM
Accession number :
edsair.doi.dedup.....a9794e6206ec67dd8e543cbe035bd0ca
Full Text :
https://doi.org/10.1093/qjmed/hcn119