Literature DB >> 18829713

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

D Bockenhauer1, 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.   

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.

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Year:  2008        PMID: 18829713     DOI: 10.1093/qjmed/hcn119

Source DB:  PubMed          Journal:  QJM        ISSN: 1460-2393


  10 in total

1.  Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.

Authors:  D Bockenhauer; W van't Hoff; M Dattani; A Lehnhardt; M Subtirelu; F Hildebrandt; D G Bichet
Journal:  Nephron Physiol       Date:  2010-08-20

Review 2.  Pathophysiology and clinical presentations of salt-losing tubulopathies.

Authors:  Hannsjörg W Seyberth
Journal:  Pediatr Nephrol       Date:  2015-07-16       Impact factor: 3.714

Review 3.  Genetic testing in renal disease.

Authors:  Detlef Bockenhauer; Alan J Medlar; Emma Ashton; Robert Kleta; Nick Lench
Journal:  Pediatr Nephrol       Date:  2011-05-27       Impact factor: 3.714

Review 4.  The long-term complications of the inherited tubulopathies: an adult perspective.

Authors:  Maryam Khosravi; Stephen B Walsh
Journal:  Pediatr Nephrol       Date:  2014-02-25       Impact factor: 3.714

Review 5.  Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Authors:  Robert Kleta; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2017-12-13       Impact factor: 10.121

Review 6.  Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

Authors:  Detlef Bockenhauer; Daniel G Bichet
Journal:  Nat Rev Nephrol       Date:  2015-06-16       Impact factor: 28.314

7.  Nephrogenic diabetes insipidus: treat with caution.

Authors:  Thierry Boussemart; Jacqueline Nsota; Dominique Martin-Coignard; Gérard Champion
Journal:  Pediatr Nephrol       Date:  2009-04-17       Impact factor: 3.714

Review 8.  Urinary concentration: different ways to open and close the tap.

Authors:  Detlef Bockenhauer; Daniel G Bichet
Journal:  Pediatr Nephrol       Date:  2013-06-06       Impact factor: 3.714

9.  A case of Bartter syndrome type I with atypical presentations.

Authors:  Eun Hye Lee; Ju Sun Heo; Hyun Kyung Lee; Kyung Hee Han; Hee Gyung Kang; Il Soo Ha; Yong Choi; Hae Il Cheong
Journal:  Korean J Pediatr       Date:  2010-08-31

10.  Clinical and diagnostic features of Bartter and Gitelman syndromes.

Authors:  Patrick R Walsh; Yincent Tse; Emma Ashton; Daniela Iancu; Lucy Jenkins; Marc Bienias; Robert Kleta; William Van't Hoff; Detlef Bockenhauer
Journal:  Clin Kidney J       Date:  2017-11-10
  10 in total

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