Antenatal Bartter's syndrome

Why is this not a lethal condition?

Detlef Böckenhauer*, M. Cruwys, R. Kleta, L. F. Halperin, P. Wildgoose, T. Souma, N. Nukiwa, S. Cheema-Dhadli, C. K. Chong, K. S. Kamel, M. R. Davids, M. L. Halperin

*Corresponding author for this work

Research output: Contribution to journalArticle

25 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)927-942
Number of pages16
JournalQJM
Volume101
Issue number12
DOIs
StatePublished - Dec 8 2008

Fingerprint

Nephrogenic Diabetes Insipidus
Bartter Syndrome
Loop of Henle
Natriuresis
Mentors
Rare Diseases
Routine Diagnostic Tests
Premature Infants
Indomethacin
Teaching
Salts
Parents
Exercise
Kidney
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Böckenhauer, D., Cruwys, M., Kleta, R., Halperin, L. F., Wildgoose, P., Souma, T., ... Halperin, M. L. (2008). Antenatal Bartter's syndrome: Why is this not a lethal condition? QJM, 101(12), 927-942. https://doi.org/10.1093/qjmed/hcn119
Böckenhauer, Detlef ; Cruwys, M. ; Kleta, R. ; Halperin, L. F. ; Wildgoose, P. ; Souma, T. ; Nukiwa, N. ; Cheema-Dhadli, S. ; Chong, C. K. ; Kamel, K. S. ; Davids, M. R. ; Halperin, M. L. / Antenatal Bartter's syndrome : Why is this not a lethal condition?. In: QJM. 2008 ; Vol. 101, No. 12. pp. 927-942.
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Böckenhauer, D, Cruwys, M, Kleta, R, Halperin, LF, Wildgoose, P, Souma, T, Nukiwa, N, Cheema-Dhadli, S, Chong, CK, Kamel, KS, Davids, MR & Halperin, ML 2008, 'Antenatal Bartter's syndrome: Why is this not a lethal condition?', QJM, vol. 101, no. 12, pp. 927-942. https://doi.org/10.1093/qjmed/hcn119

Antenatal Bartter's syndrome : Why is this not a lethal condition? / Böckenhauer, Detlef; Cruwys, M.; Kleta, R.; Halperin, L. F.; Wildgoose, P.; Souma, T.; Nukiwa, N.; Cheema-Dhadli, S.; Chong, C. K.; Kamel, K. S.; Davids, M. R.; Halperin, M. L.

In: QJM, Vol. 101, No. 12, 08.12.2008, p. 927-942.

Research output: Contribution to journalArticle

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AU - Kleta, R.

AU - Halperin, L. F.

AU - Wildgoose, P.

AU - Souma, T.

AU - Nukiwa, N.

AU - Cheema-Dhadli, S.

AU - Chong, C. K.

AU - Kamel, K. S.

AU - Davids, M. R.

AU - Halperin, M. L.

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Böckenhauer D, Cruwys M, Kleta R, Halperin LF, Wildgoose P, Souma T et al. Antenatal Bartter's syndrome: Why is this not a lethal condition? QJM. 2008 Dec 8;101(12):927-942. https://doi.org/10.1093/qjmed/hcn119