Literature DB >> 25165179

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.

Oliver Gross1, Laura Perin2, Constantinos Deltas3.   

Abstract

The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the 'inevitable' course to a treatable disease. Tomorrow, researchers hope to erase the 'always' from 'always leads to renal failure' in the textbooks. This review elucidates therapeutic targets that evolve from research: (i) kidney embryogenesis and pathogenesis; (ii) phenotype-genotype correlation and the role of collagen receptors and podocytes; (iii) the malfunctioning Alport-GBM; (iv) tubulointerstitial fibrosis; (v) the role of proteinuria in pathogenesis and prognosis; and (vi) secondary events such as infections, hyperparathyroidism and hypercholesterolaemia. Therefore, moderate lifestyle, therapy of bacterial infections, Paricalcitol in adult patients with hyperparathyroidism and HMG-CoA-reductase inhibitors in adult patients with dyslipoproteinemia might contribute to a slower progression of AS and less cardiovascular events. In the future, upcoming treatments including stem cells, chaperon therapy, collagen receptor blockade and anti-microRNA therapy will expand our perspective in protecting the kidneys of Alport patients from further damage. This perspective on current and future therapies is naturally limited by our personal focus in research, but aims to motivate young scientists and clinicians to find a multimodal cure for AS.
© The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Entities:  

Keywords:  Alport syndrome; chaperon therapy; discoidin domain receptor 1; kidney fibrosis; microRNA-21

Mesh:

Substances:

Year:  2014        PMID: 25165179     DOI: 10.1093/ndt/gfu028

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


  14 in total

1.  Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.

Authors:  Johanna Stock; Johannes Kuenanz; Niklas Glonke; Joseph Sonntag; Jenny Frese; Burkhard Tönshoff; Britta Höcker; Bernd Hoppe; Markus Feldkötter; Lars Pape; Christian Lerch; Simone Wygoda; Manfred Weber; Gerhard-Anton Müller; Oliver Gross
Journal:  Pediatr Nephrol       Date:  2016-07-11       Impact factor: 3.714

2.  The activin receptor is stimulated in the skeleton, vasculature, heart, and kidney during chronic kidney disease.

Authors:  Matthew J Williams; Toshifumi Sugatani; Olga A Agapova; Yifu Fang; Joseph P Gaut; Marie-Claude Faugere; Hartmut H Malluche; Keith A Hruska
Journal:  Kidney Int       Date:  2017-08-23       Impact factor: 10.612

3.  A case of mild phenotype Alport syndrome caused by COL4A3 mutations.

Authors:  Masafumi Kamijo; Mineaki Kitamura; Kumiko Muta; Tadashi Uramatsu; Yoko Obata; Kandai Nozu; Hiroshi Kaito; Kazumoto Iijima; Hiroshi Mukae; Tomoya Nishino
Journal:  CEN Case Rep       Date:  2017-08-30

Review 4.  The Genetics of Nephrotic Syndrome.

Authors:  Michelle N Rheault; Rasheed A Gbadegesin
Journal:  J Pediatr Genet       Date:  2015-08-13

Review 5.  Podocytopathies.

Authors:  Jeffrey B Kopp; Hans-Joachim Anders; Katalin Susztak; Manuel A Podestà; Giuseppe Remuzzi; Friedhelm Hildebrandt; Paola Romagnani
Journal:  Nat Rev Dis Primers       Date:  2020-08-13       Impact factor: 52.329

6.  Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Authors:  Louiza Papazachariou; Panayiota Demosthenous; Myrtani Pieri; Gregory Papagregoriou; Isavella Savva; Christoforos Stavrou; Michael Zavros; Yiannis Athanasiou; Kyriakos Ioannou; Charalambos Patsias; Alexia Panagides; Costas Potamitis; Kyproula Demetriou; Marios Prikis; Michael Hadjigavriel; Maria Kkolou; Panayiota Loukaidou; Androulla Pastelli; Aristos Michael; Akis Lazarou; Maria Arsali; Loukas Damianou; Ioanna Goutziamani; Andreas Soloukides; Lakis Yioukas; Avraam Elia; Ioanna Zouvani; Polycarpos Polycarpou; Alkis Pierides; Konstantinos Voskarides; Constantinos Deltas
Journal:  PLoS One       Date:  2014-12-16       Impact factor: 3.240

7.  The Variability of Estimated Glomerular Filtration Rate Decline in Alport Syndrome.

Authors:  David Langsford; Mila Tang; Ognjenka Djurdjev; Lee Er; Adeera Levin
Journal:  Can J Kidney Health Dis       Date:  2016-12-20

8.  Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment.

Authors:  Munkyung Kim; Alessandro Piaia; Neeta Shenoy; David Kagan; Berangere Gapp; Benjamin Kueng; Delphine Weber; William Dietrich; Iwona Ksiazek
Journal:  PLoS One       Date:  2015-11-10       Impact factor: 3.240

9.  The 2014International Workshop on Alport Syndrome.

Authors:  Jeffrey H Miner; Colin Baigent; Frances Flinter; Oliver Gross; Parminder Judge; Clifford E Kashtan; Sharon Lagas; Judith Savige; Dave Blatt; Jie Ding; Daniel P Gale; Julian P Midgley; Sue Povey; Marco Prunotto; Daniel Renault; Jules Skelding; A Neil Turner; Susie Gear
Journal:  Kidney Int       Date:  2014-07-02       Impact factor: 10.612

10.  Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Authors:  Oliver Gross; Clifford E Kashtan; Michelle N Rheault; Frances Flinter; Judith Savige; Jeffrey H Miner; Roser Torra; Elisabet Ars; Constantinos Deltas; Isavella Savva; Laura Perin; Alessandra Renieri; Francesca Ariani; Francesca Mari; Colin Baigent; Parminder Judge; Bertrand Knebelman; Laurence Heidet; Sharon Lagas; Dave Blatt; Jie Ding; Yanqin Zhang; Daniel P Gale; Marco Prunotto; Yong Xue; Asher D Schachter; Lori C G Morton; Jacqui Blem; Michael Huang; Shiguang Liu; Sebastien Vallee; Daniel Renault; Julia Schifter; Jules Skelding; Susie Gear; Tim Friede; A Neil Turner; Rachel Lennon
Journal:  Nephrol Dial Transplant       Date:  2017-06-01       Impact factor: 5.992

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