A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collage...

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Autores principales:	Sienes Bailo Paula, Bancalero Flores José Luis, Lahoz Alonso Raquel, Santamaría González María, Gutiérrez Dalmau Alex, Álvarez de Andrés Sara, Izquierdo Álvarez Silvia
Formato:	article
Lenguaje:	EN ES
Publicado:	De Gruyter 2021
Materias:	alport syndrome col4a3 familial glomerular hematuria Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/5190933837774244ba192c3803dbdd77
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id	oai:doaj.org-article:5190933837774244ba192c3803dbdd77
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spelling	oai:doaj.org-article:5190933837774244ba192c3803dbdd772021-12-05T14:10:40ZA novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease2628-491X10.1515/almed-2021-0058https://doaj.org/article/5190933837774244ba192c3803dbdd772021-07-01T00:00:00Zhttps://doi.org/10.1515/almed-2021-0058https://doaj.org/toc/2628-491XPatients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition.Sienes Bailo PaulaBancalero Flores José LuisLahoz Alonso RaquelSantamaría González MaríaGutiérrez Dalmau AlexÁlvarez de Andrés SaraIzquierdo Álvarez SilviaDe Gruyterarticlealport syndromecol4a3familial glomerular hematuriaMedical technologyR855-855.5ENESAdvances in Laboratory Medicine, Vol 2, Iss 3, Pp 451-456 (2021)
institution	DOAJ
collection	DOAJ
language	EN ES
topic	alport syndrome col4a3 familial glomerular hematuria Medical technology R855-855.5
spellingShingle	alport syndrome col4a3 familial glomerular hematuria Medical technology R855-855.5 Sienes Bailo Paula Bancalero Flores José Luis Lahoz Alonso Raquel Santamaría González María Gutiérrez Dalmau Alex Álvarez de Andrés Sara Izquierdo Álvarez Silvia A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
description	Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition.
format	article
author	Sienes Bailo Paula Bancalero Flores José Luis Lahoz Alonso Raquel Santamaría González María Gutiérrez Dalmau Alex Álvarez de Andrés Sara Izquierdo Álvarez Silvia
author_facet	Sienes Bailo Paula Bancalero Flores José Luis Lahoz Alonso Raquel Santamaría González María Gutiérrez Dalmau Alex Álvarez de Andrés Sara Izquierdo Álvarez Silvia
author_sort	Sienes Bailo Paula
title	A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
title_short	A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
title_full	A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
title_fullStr	A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
title_full_unstemmed	A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
title_sort	novel variant in the col4a3 gene: etiology of alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/5190933837774244ba192c3803dbdd77
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A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

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