QJM Advance Access published online on October 1, 2008
QJM, doi:10.1093/qjmed/hcn119
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Antenatal Bartter's syndrome: why is this not a lethal condition?
From the 1Great Ormond Street Hospital for Children NHS Trust, London, 2Hillingdon Hospital, Uxbridge, 3London Epithelial Group, Centre for Nephrology, University College London, London, UK, 4Division of Nephrology, St Michael's Hospital, University of Toronto, Toronto, ON, Canada, 5Division of Nephrology and Department of Medicine, Stellenbosch University, Cape Town, South Africa
Address correspondence to Detlef Böckenhauer, MD, FRCPCH, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK. email: detlef.bockenhauer{at}nhs.net
Received 2 July 2008 and in revised form 26 August 2008
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Abstract |
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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.