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

Clifford E. Kashtan; Oliver Gross

doi:10.1007/s00467-020-04819-6

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

Clifford E. Kashtan, Oliver Gross

Research output: Contribution to journal › Article › peer-review

66 Scopus citations

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.

Original language	English (US)
Pages (from-to)	711-719
Number of pages	9
Journal	Pediatric Nephrology
Volume	36
Issue number	3
DOIs	https://doi.org/10.1007/s00467-020-04819-6
State	Published - Mar 2021
Externally published	Yes

Bibliographical note

Funding Information:
CEK is the Executive Director of the Alport Syndrome Treatments and Outcomes Registry ( alportregistry.org ) ( clinicaltrials.gov identifier NCT00481130), which receives funding from the Alport Syndrome Foundation ( alportsyndrome.org ) and private donors. CEK is a site investigator for the CARDINAL trial ( clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and the HERA trial ( clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. CEK has consulting relationships with Retrophin, ONO Pharmaceuticals and Daiichi Sankyo and recent research funding from the Novartis Institute for Biomedical Research. None of the listed organizations or companies had input into the content of this manuscript.

Funding Information:
OG is the initiator and principle investigator of the European Alport registry ( clinicaltrials.gov identifier NCT02378805), which has received funding from the Association pour l’Information et la Recherche sur les Maladies Rénales Génétiques (AIRG) and the KfH Foundation Preventive Medicine (Fritz-Scheler Stipendium of the German Society of Nephrology). OG is initiator and principle investigator of the EARLY PRO-TECT Alport trial ( clinicaltrials.gov identifier NCT01485978), which was funded by the German Federal Ministry of Education and Research (01KG1104). OG is national principle investigator for the CARDINAL trial ( clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and site investigator of the HERA trial ( clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. OG has consulting relationships with Boehringer Ingelheim, ONO Pharmaceuticals, Reata Pharmaceuticals, Retrophin and Daiichi Sankyo. None of the listed organizations or companies had input into the content of this manuscript.

Funding Information:
CEK is the Executive Director of the Alport Syndrome Treatments and Outcomes Registry (alportregistry.org) (clinicaltrials.gov identifier NCT00481130), which receives funding from the Alport Syndrome Foundation (alportsyndrome.org) and private donors. CEK is a site investigator for the CARDINAL trial (clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and the HERA trial (clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. CEK has consulting relationships with Retrophin, ONO Pharmaceuticals and Daiichi Sankyo and recent research funding from the Novartis Institute for Biomedical Research. None of the listed organizations or companies had input into the content of this manuscript. OG is the initiator and principle investigator of the European Alport registry (clinicaltrials.gov identifier NCT02378805), which has received funding from the Association pour l’Information et la Recherche sur les Maladies Rénales Génétiques (AIRG) and the KfH Foundation Preventive Medicine (Fritz-Scheler Stipendium of the German Society of Nephrology). OG is initiator and principle investigator of the EARLY PRO-TECT Alport trial (clinicaltrials.gov identifier NCT01485978), which was funded by the German Federal Ministry of Education and Research (01KG1104). OG is national principle investigator for the CARDINAL trial (clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and site investigator of the HERA trial (clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. OG has consulting relationships with Boehringer Ingelheim, ONO Pharmaceuticals, Reata Pharmaceuticals, Retrophin and Daiichi Sankyo. None of the listed organizations or companies had input into the content of this manuscript.

Publisher Copyright:
© 2020, IPNA.

Keywords

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

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title = "Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020",

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.",

keywords = "Alport syndrome, Angiotensin-converting enzyme inhibition, Collagen IV, Hematuria, Microalbuminuria, Proteinuria, Treatment recommendations",

author = "Kashtan, {Clifford E.} and Oliver Gross",

note = "Funding Information: CEK is the Executive Director of the Alport Syndrome Treatments and Outcomes Registry ( alportregistry.org ) ( clinicaltrials.gov identifier NCT00481130), which receives funding from the Alport Syndrome Foundation ( alportsyndrome.org ) and private donors. CEK is a site investigator for the CARDINAL trial ( clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and the HERA trial ( clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. CEK has consulting relationships with Retrophin, ONO Pharmaceuticals and Daiichi Sankyo and recent research funding from the Novartis Institute for Biomedical Research. None of the listed organizations or companies had input into the content of this manuscript. Funding Information: OG is the initiator and principle investigator of the European Alport registry ( clinicaltrials.gov identifier NCT02378805), which has received funding from the Association pour l{\textquoteright}Information et la Recherche sur les Maladies R{\'e}nales G{\'e}n{\'e}tiques (AIRG) and the KfH Foundation Preventive Medicine (Fritz-Scheler Stipendium of the German Society of Nephrology). OG is initiator and principle investigator of the EARLY PRO-TECT Alport trial ( clinicaltrials.gov identifier NCT01485978), which was funded by the German Federal Ministry of Education and Research (01KG1104). OG is national principle investigator for the CARDINAL trial ( clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and site investigator of the HERA trial ( clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. OG has consulting relationships with Boehringer Ingelheim, ONO Pharmaceuticals, Reata Pharmaceuticals, Retrophin and Daiichi Sankyo. None of the listed organizations or companies had input into the content of this manuscript. Funding Information: CEK is the Executive Director of the Alport Syndrome Treatments and Outcomes Registry (alportregistry.org) (clinicaltrials.gov identifier NCT00481130), which receives funding from the Alport Syndrome Foundation (alportsyndrome.org) and private donors. CEK is a site investigator for the CARDINAL trial (clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and the HERA trial (clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. CEK has consulting relationships with Retrophin, ONO Pharmaceuticals and Daiichi Sankyo and recent research funding from the Novartis Institute for Biomedical Research. None of the listed organizations or companies had input into the content of this manuscript. OG is the initiator and principle investigator of the European Alport registry (clinicaltrials.gov identifier NCT02378805), which has received funding from the Association pour l{\textquoteright}Information et la Recherche sur les Maladies R{\'e}nales G{\'e}n{\'e}tiques (AIRG) and the KfH Foundation Preventive Medicine (Fritz-Scheler Stipendium of the German Society of Nephrology). OG is initiator and principle investigator of the EARLY PRO-TECT Alport trial (clinicaltrials.gov identifier NCT01485978), which was funded by the German Federal Ministry of Education and Research (01KG1104). OG is national principle investigator for the CARDINAL trial (clinicaltrials.gov identifier NCT03019185) sponsored by Reata Pharmaceuticals and site investigator of the HERA trial (clinicaltrials.gov identifier NCT02855268) sponsored by Sanofi-Genzyme. OG has consulting relationships with Boehringer Ingelheim, ONO Pharmaceuticals, Reata Pharmaceuticals, Retrophin and Daiichi Sankyo. None of the listed organizations or companies had input into the content of this manuscript. Publisher Copyright: {\textcopyright} 2020, IPNA.",

year = "2021",

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doi = "10.1007/s00467-020-04819-6",

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volume = "36",

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

Abstract

Bibliographical note

Keywords

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