Literature DB >> 24482089

A curious case of haemolysis, seizure and acute renal failure associated with pregnancy.

Konstantinos Koutroutsos1, Jennifer Jardine, Louise Ross, Aris Papageorghiou, Roberto Stasi, Debasish Banerjee.   

Abstract

Differential diagnosis between thrombotic microangiopathies in pregnancy is challenging due to overlapping clinical and pathological findings and the rapid progression of disease. We present here an unusual case of Haemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome, which represents this diagnostic dilemma. The patient was treated with steroids and plasma exchange, leading to a favourable outcome. Subsequent genetic testing for complement dysregulation revealed a previously unknown variant in intron 3 of the gene coding for the alternative complement pathway factor H: (c.350+9T>C). We discuss here the diagnostic dilemma presented, the treatment pathway in the current literature, and the potential involvement of complement deregulation in severe HELLP. This case underlines the complexity in the diagnosis and management of pregnancy-related thrombotic microangiopathies.

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Year:  2014        PMID: 24482089     DOI: 10.1007/s40620-013-0007-2

Source DB:  PubMed          Journal:  J Nephrol        ISSN: 1121-8428            Impact factor:   3.902


  10 in total

1.  Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.

Authors:  David Kavanagh; Holly E Anderson
Journal:  Kidney Int       Date:  2012-01       Impact factor: 10.612

2.  Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.

Authors:  Fadi Fakhouri; Mathieu Jablonski; Jacques Lepercq; Jacques Blouin; Alexandra Benachi; Maryvonne Hourmant; Yves Pirson; Antoine Dürrbach; Jean-Pierre Grünfeld; Bertrand Knebelmann; Véronique Frémeaux-Bacchi
Journal:  Blood       Date:  2008-07-24       Impact factor: 22.113

Review 3.  Atypical hemolytic-uremic syndrome.

Authors:  Marina Noris; Giuseppe Remuzzi
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

Review 4.  Dysregulated complement activation as a common pathway of injury in preeclampsia and other pregnancy complications.

Authors:  A M Lynch; J E Salmon
Journal:  Placenta       Date:  2010-04-27       Impact factor: 3.481

Review 5.  Advances in understanding of pathogenesis of aHUS and HELLP.

Authors:  Celia J Fang; Anna Richards; M Kathryn Liszewski; David Kavanagh; John P Atkinson
Journal:  Br J Haematol       Date:  2008-08-04       Impact factor: 6.998

6.  Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.

Authors:  Celia J Fang; Veronique Fremeaux-Bacchi; M Kathryn Liszewski; Gaia Pianetti; Marina Noris; Timothy H J Goodship; John P Atkinson
Journal:  Blood       Date:  2007-10-03       Impact factor: 22.113

Review 7.  Imitators of severe pre-eclampsia.

Authors:  Baha M Sibai
Journal:  Semin Perinatol       Date:  2009-06       Impact factor: 3.300

Review 8.  Hemolytic uremic syndrome.

Authors:  Marina Noris; Giuseppe Remuzzi
Journal:  J Am Soc Nephrol       Date:  2005-02-23       Impact factor: 10.121

9.  Treatment of atypical uraemic syndrome in the era of eculizumab.

Authors:  Veronique Fremeaux-Bacchi
Journal:  Clin Kidney J       Date:  2012-02

Review 10.  The HELLP syndrome: clinical issues and management. A Review.

Authors:  Kjell Haram; Einar Svendsen; Ulrich Abildgaard
Journal:  BMC Pregnancy Childbirth       Date:  2009-02-26       Impact factor: 3.007

  10 in total

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