Literature DB >> 33159213

Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.

Clifford E Kashtan1, Oliver Gross2.   

Abstract

In 2013, we published a set of clinical practice recommendations for the treatment of Alport syndrome in this journal. We recommended delaying the initiation of angiotensin-converting enzyme inhibition until the onset of overt proteinuria or, in some cases, microalbuminuria. Developments that have occurred over the past 7 years have prompted us to revise these recommendations. We now recommend the initiation of treatment at the time of diagnosis in males with X-linked Alport syndrome and in males and females with autosomal recessive Alport syndrome. We further recommend starting treatment at the onset of microalbuminuria in females with X-linked Alport syndrome and in males and females with autosomal dominant Alport syndrome. This article presents the rationale for these revisions as well as recommendations for diagnostic tactics intended to ensure the early diagnosis of Alport syndrome.

Entities:  

Keywords:  Alport syndrome; Angiotensin-converting enzyme inhibition; Collagen IV; Hematuria; Microalbuminuria; Proteinuria; Treatment recommendations

Mesh:

Substances:

Year:  2020        PMID: 33159213     DOI: 10.1007/s00467-020-04819-6

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  40 in total

1.  Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.

Authors:  Oliver Gross; Christoph Licht; Hans J Anders; Bernd Hoppe; Bodo Beck; Burkhard Tönshoff; Britta Höcker; Simone Wygoda; Jochen H H Ehrich; Lars Pape; Martin Konrad; Wolfgang Rascher; Jörg Dötsch; Dirk E Müller-Wiefel; Peter Hoyer; Bertrand Knebelmann; Yves Pirson; Jean-Pierre Grunfeld; Patrick Niaudet; Pierre Cochat; Laurence Heidet; Said Lebbah; Roser Torra; Tim Friede; Katharina Lange; Gerhard A Müller; Manfred Weber
Journal:  Kidney Int       Date:  2011-12-14       Impact factor: 10.612

2.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Authors:  D F Barker; S L Hostikka; J Zhou; L T Chow; A R Oliphant; S C Gerken; M C Gregory; M H Skolnick; C L Atkin; K Tryggvason
Journal:  Science       Date:  1990-06-08       Impact factor: 47.728

3.  Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Authors:  Laurence Heidet; Christelle Arrondel; Lionel Forestier; Lola Cohen-Solal; Geraldine Mollet; Bruno Gutierrez; Christophoros Stavrou; Marie Claire Gubler; Corinne Antignac
Journal:  J Am Soc Nephrol       Date:  2001-01       Impact factor: 10.121

4.  Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome.

Authors:  D Cosgrove; D T Meehan; J A Grunkemeyer; J M Kornak; R Sayers; W J Hunter; G C Samuelson
Journal:  Genes Dev       Date:  1996-12-01       Impact factor: 11.361

5.  Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Authors:  E Boye; G Mollet; L Forestier; L Cohen-Solal; L Heidet; P Cochat; J P Grünfeld; J B Palcoux; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

6.  Antifibrotic, nephroprotective potential of ACE inhibitor vs AT1 antagonist in a murine model of renal fibrosis.

Authors:  Oliver Gross; Eckhard Schulze-Lohoff; Marie-Louise Koepke; Bogdan Beirowski; Klaus Addicks; Wilhelm Bloch; Neil Smyth; Manfred Weber
Journal:  Nephrol Dial Transplant       Date:  2004-05-05       Impact factor: 5.992

7.  Mouse model of X-linked Alport syndrome.

Authors:  Michelle N Rheault; Stefan M Kren; Beth K Thielen; Hector A Mesa; John T Crosson; William Thomas; Yoshikazu Sado; Clifford E Kashtan; Yoav Segal
Journal:  J Am Soc Nephrol       Date:  2004-06       Impact factor: 10.121

8.  Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome.

Authors:  Oliver Gross; Bogdan Beirowski; Marie-Louise Koepke; Jeannine Kuck; Michael Reiner; Klaus Addicks; Neil Smyth; Eckhard Schulze-Lohoff; Manfred Weber
Journal:  Kidney Int       Date:  2003-02       Impact factor: 10.612

9.  Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative.

Authors:  Clifford E Kashtan; Jie Ding; Martin Gregory; Oliver Gross; Laurence Heidet; Bertrand Knebelmann; Michelle Rheault; Christoph Licht
Journal:  Pediatr Nephrol       Date:  2012-03-30       Impact factor: 3.714

10.  Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome.

Authors:  J H Miner; J R Sanes
Journal:  J Cell Biol       Date:  1996-12       Impact factor: 10.539

View more
  10 in total

Review 1.  Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.

Authors:  Jiahui Zhang; Changming Zhang; Erzhi Gao; Qing Zhou
Journal:  Kidney Dis (Basel)       Date:  2021-09-29

2.  Guidelines for Genetic Testing and Management of Alport Syndrome.

Authors:  Judy Savige; Beata S Lipska-Zietkiewicz; Elizabeth Watson; Jens Michael Hertz; Constantinos Deltas; Francesca Mari; Pascale Hilbert; Pavlina Plevova; Peter Byers; Agne Cerkauskaite; Martin Gregory; Rimante Cerkauskiene; Danica Galesic Ljubanovic; Francesca Becherucci; Carmela Errichiello; Laura Massella; Valeria Aiello; Rachel Lennon; Louise Hopkinson; Ania Koziell; Adrian Lungu; Hansjorg Martin Rothe; Julia Hoefele; Miriam Zacchia; Tamara Nikuseva Martic; Asheeta Gupta; Albertien van Eerde; Susie Gear; Samuela Landini; Viviana Palazzo; Laith Al-Rabadi; Kathleen Claes; Anniek Corveleyn; Evelien Van Hoof; Micheel van Geel; Maggie Williams; Emma Ashton; Hendica Belge; Elisabet Ars; Agnieszka Bierzynska; Concetta Gangemi; Alessandra Renieri; Helen Storey; Frances Flinter
Journal:  Clin J Am Soc Nephrol       Date:  2021-12-20       Impact factor: 8.237

3.  Epidemiology and clinicopathological characteristics of native kidney disease in children in Flanders, Belgium.

Authors:  Dries Deleersnijder; Noël Knops; Dominique Trouet; Koen Van Hoeck; Sevasti Karamaria; Johan Vande Walle; Reiner Mauel; Louise Cools; Gert Meeus; Amélie Dendooven; Johan De Meester; Wim Laurens; Ben Sprangers
Journal:  Pediatr Nephrol       Date:  2022-10-13       Impact factor: 3.651

Review 4.  Prospective collagen IVα345 therapies for Alport syndrome.

Authors:  Sergei P Boudko; Elena Pokidysheva; Billy G Hudson
Journal:  Curr Opin Nephrol Hypertens       Date:  2022-03-10       Impact factor: 3.416

Review 5.  Novel Therapies for Alport Syndrome.

Authors:  Efren Chavez; Juanly Rodriguez; Yelena Drexler; Alessia Fornoni
Journal:  Front Med (Lausanne)       Date:  2022-04-25

Review 6.  Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians.

Authors:  Raquel Martínez-Pulleiro; María García-Murias; Manuel Fidalgo-Díaz; Miguel Ángel García-González
Journal:  Int J Mol Sci       Date:  2021-10-14       Impact factor: 5.923

7.  A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.

Authors:  Jing Wu; Jun Zhang; Li Liu; Bo Zhang; Tomohiko Yamamura; Kandai Nozu; Masafumi Matsuo; Jinghong Zhao
Journal:  BMC Nephrol       Date:  2021-11-13       Impact factor: 2.388

8.  Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

Authors:  Agne Cerkauskaite; Judy Savige; Karolina Janonyte; Ieva Jeremiciute; Marius Miglinas; Edita Kazenaite; Arvydas Laurinavicius; Rasa Strupaite-Sileikiene; Vija Vainutiene; Birute Burnyte; Augustina Jankauskiene; Arndt Rolfs; Peter Bauer; Sabine Schröder; Rimante Cerkauskiene
Journal:  Front Med (Lausanne)       Date:  2022-03-28

Review 9.  Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.

Authors:  Ana Marta Gomes; Daniela Lopes; Clara Almeida; Sofia Santos; Jorge Malheiro; Irina Lousa; Alberto Caldas Afonso; Idalina Beirão
Journal:  Int J Mol Sci       Date:  2022-06-30       Impact factor: 6.208

10.  A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.

Authors:  Naonori Kumagai; Yuji Matsumoto; Tomomi Kondoh; Yohei Ikezumi
Journal:  Hum Genome Var       Date:  2022-08-31
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.