Antenatal Bartters syndrome: why is this not a lethal condition

被引:23
作者
Bockenhauer, D. [1 ]
Cruwys, M. [2 ]
Kleta, R. [3 ]
Halperin, L. F. [4 ]
Wildgoose, P. [4 ]
Souma, T. [4 ]
Nukiwa, N. [4 ]
Cheema-Dhadli, S. [4 ]
Chong, C. K. [4 ]
Kamel, K. S. [4 ]
Davids, M. R. [5 ,6 ]
Halperin, M. L. [4 ]
机构
[1] Great Ormond St Hosp Sick Children, London WC1N 3JH, England
[2] Hillingdon Hosp, Uxbridge, Middx, England
[3] UCL, Ctr Nephrol, London Epithelial Grp, London, England
[4] Univ Toronto, St Michaels Hosp, Div Nephrol, Toronto, ON M5B 1W8, Canada
[5] Univ Stellenbosch, Div Nephrol, Cape Town, South Africa
[6] Univ Stellenbosch, Dept Med, Cape Town, South Africa
关键词
D O I
10.1093/qjmed/hcn119
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:927 / 942
页数:16
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