Journal
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE
Volume 101, Issue 12, Pages 927-942Publisher
OXFORD UNIV PRESS
DOI: 10.1093/qjmed/hcn119
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Funding
- Great Ormond Street Hospital Childrens Charity [V0901] Funding Source: researchfish
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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 Bartters 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.
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