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Kidney Int. 2018 May;93(5):1045-1051. doi: 10.1016/j.kint.2017.12.018. Epub 2018 Mar 16.

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Author information

1
Department of Pediatrics, Division of Pediatric Nephrology, Alport Syndrome Treatments and Outcomes Registry, University of Minnesota Medical School and Masonic Children's Hospital, Minneapolis, Minnesota, USA. Electronic address: kasht001@umn.edu.
2
Department of Pediatrics, Peking University First Hospital, Beijing, China.
3
Unita Operativa Complessa Nefrologia, Dialisi e Trapianto, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
4
Asssitance Publique-Hôpitaux de Paris, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte and Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
5
Nephrology and Dialysis Unit, Pediatric Subspecialties Department, Bambino Gesu Children's Hospital, Istituto Di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
6
Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukus, Okinawa, Japan.
7
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
8
Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
9
Department of Pediatrics, Division of Pediatric Nephrology, Alport Syndrome Treatments and Outcomes Registry, University of Minnesota Medical School and Masonic Children's Hospital, Minneapolis, Minnesota, USA.
10
Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany.

Abstract

Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal disease leading to ESRD, and with extrarenal manifestations such as sensorineural deafness and ocular anomalies. The existing nomenclature for these conditions is confusing and can delay institution of appropriate nephroprotective therapy. Herein we propose a new classification of genetic disorders of the collagen IV α345 molecule with the goal of improving renal outcomes through regular monitoring and early treatment.

KEYWORDS:

Alport syndrome; chronic kidney disease; proteinuria

PMID:
29551517
DOI:
10.1016/j.kint.2017.12.018
[Indexed for MEDLINE]

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