Literature DB >> 30870849

Mother and Child Reunion in "Hypertensive" End-Stage Renal Disease: Will They Complement Each Other?

Sjoerd A M E G Timmermans1, Pieter van Paassen2.   

Abstract

Severe hypertension can lead to irreversible kidney failure and end-stage renal disease (ESRD) and vice versa. Patients are often classified as hypertensive ESRD with no confirmative proof and the true cause of disease can therefore be missed, affecting outcomes. We present a case of chronic thrombotic microangiopathy (TMA) after kidney transplantation in a recipient who had been classified as hypertensive ESRD and found to have a genetic defect in CD46, a transmembrane protein that regulates complement activation, indicating atypical hemolytic uremic syndrome (HUS). The pathogenic variant in CD46 was also found in the mother who donated the kidney, indicating that the TMA occurred on the background of atypical HUS instead of severe hypertension. The patient died from disseminated cancer originated in the mother's kidney. Knowledge of the genetic background would have prevented recurrent disease and the cancer to occur. Patients classified as hypertensive ESRD suspect for TMA should therefore be screened for variants in complement genes to make informed decisions and save kidneys.
© 2019 The Author(s) Published by S. Karger AG, Basel.

Entities:  

Keywords:  Acute renal injury; Complement; End-stage renal disease; Genetics; Hemolytic uremic syndrome; Hypertension

Mesh:

Substances:

Year:  2019        PMID: 30870849      PMCID: PMC6690409          DOI: 10.1159/000497779

Source DB:  PubMed          Journal:  Nephron        ISSN: 1660-8151            Impact factor:   2.847


  18 in total

1.  Cancer incidence before and after kidney transplantation.

Authors:  Claire M Vajdic; Stephen P McDonald; Margaret R E McCredie; Marina T van Leeuwen; John H Stewart; Matthew Law; Jeremy R Chapman; Angela C Webster; John M Kaldor; Andrew E Grulich
Journal:  JAMA       Date:  2006-12-20       Impact factor: 56.272

2.  Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Authors:  Marina Noris; Jessica Caprioli; Elena Bresin; Chiara Mossali; Gaia Pianetti; Sara Gamba; Erica Daina; Chiara Fenili; Federica Castelletti; Annalisa Sorosina; Rossella Piras; Roberta Donadelli; Ramona Maranta; Irene van der Meer; Edward M Conway; Peter F Zipfel; Timothy H Goodship; Giuseppe Remuzzi
Journal:  Clin J Am Soc Nephrol       Date:  2010-07-01       Impact factor: 8.237

3.  Living Donor Kidney Transplantation in Atypical Hemolytic Uremic Syndrome: A Case Series.

Authors:  Caroline Duineveld; Jacobien C Verhave; Stefan P Berger; Nicole C A J van de Kar; Jack F M Wetzels
Journal:  Am J Kidney Dis       Date:  2017-08-16       Impact factor: 8.860

4.  Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.

Authors:  Frida C Mohlin; Sara C Nilsson; Tanja Kersnik Levart; Ema Golubovic; Krisztina Rusai; Thomas Müller-Sacherer; Klaus Arbeiter; Éva Pállinger; Nóra Szarvas; Dorottya Csuka; Ágnes Szilágyi; Bruno O Villoutreix; Zoltán Prohászka; Anna M Blom
Journal:  Mol Immunol       Date:  2015-02-28       Impact factor: 4.407

5.  Regulated complement deposition on the surface of human endothelial cells: effect of tobacco smoke and shear stress.

Authors:  Wei Yin; Berhane Ghebrehiwet; Babette Weksler; Ellinor I B Peerschke
Journal:  Thromb Res       Date:  2007-12-31       Impact factor: 3.944

6.  Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.

Authors:  Marina Noris; Miriam Galbusera; Sara Gastoldi; Paolo Macor; Federica Banterla; Elena Bresin; Claudio Tripodo; Serena Bettoni; Roberta Donadelli; Elisabetta Valoti; Francesco Tedesco; Alessandro Amore; Rosanna Coppo; Piero Ruggenenti; Eliana Gotti; Giuseppe Remuzzi
Journal:  Blood       Date:  2014-07-18       Impact factor: 22.113

7.  Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Authors:  Véronique Fremeaux-Bacchi; Fadi Fakhouri; Arnaud Garnier; Frank Bienaimé; Marie-Agnès Dragon-Durey; Stéphanie Ngo; Bruno Moulin; Aude Servais; François Provot; Lionel Rostaing; Stéphane Burtey; Patrick Niaudet; Georges Deschênes; Yvon Lebranchu; Julien Zuber; Chantal Loirat
Journal:  Clin J Am Soc Nephrol       Date:  2013-01-10       Impact factor: 8.237

8.  Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Authors:  Timothy H J Goodship; H Terence Cook; Fadi Fakhouri; Fernando C Fervenza; Véronique Frémeaux-Bacchi; David Kavanagh; Carla M Nester; Marina Noris; Matthew C Pickering; Santiago Rodríguez de Córdoba; Lubka T Roumenina; Sanjeev Sethi; Richard J H Smith
Journal:  Kidney Int       Date:  2016-12-16       Impact factor: 10.612

9.  The development of atypical hemolytic uremic syndrome depends on complement C5.

Authors:  Elena Goicoechea de Jorge; Paolo Macor; Danielle Paixão-Cavalcante; Kirsten L Rose; Franco Tedesco; H Terence Cook; Marina Botto; Matthew C Pickering
Journal:  J Am Soc Nephrol       Date:  2010-12-09       Impact factor: 14.978

10.  Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Authors:  Christopher P Larsen; Jon D Wilson; Alejandro Best-Rocha; Marjorie L Beggs; Randolph A Hennigar
Journal:  Mod Pathol       Date:  2017-11-17       Impact factor: 7.842

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  3 in total

1.  The natural course of pregnancies in women with primary atypical haemolytic uraemic syndrome and asymptomatic relatives.

Authors:  Sjoerd A M E G Timmermans; Alexis Werion; Marc E A Spaanderman; Chris P Reutelingsperger; Jan G M C Damoiseaux; Johann Morelle; Pieter van Paassen
Journal:  Br J Haematol       Date:  2020-04-27       Impact factor: 6.998

2.  Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.

Authors:  Sjoerd A M E G Timmermans; Jan G M C Damoiseaux; Alexis Werion; Chris P Reutelingsperger; Johann Morelle; Pieter van Paassen
Journal:  Kidney Int Rep       Date:  2021-02-03

3.  Chronic thrombotic microangiopathy in patients with a C3 gain of function protein.

Authors:  Sjoerd A M E G Timmermans; Myrurgia H Abdul-Hamid; Pieter van Paassen
Journal:  Nephrol Dial Transplant       Date:  2020-08-01       Impact factor: 5.992

  3 in total

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