Cargando…

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5

We herein report 2 Japanese patients with X-linked Alport syndrome (XLAS), with a novel variant in COL4A5. Patient 1 was a 16-year-old Japanese girl with a history of microscopic hematuria, without proteinuria, renal dysfunction, deafness, or ocular abnormalities. At 13 years of age, renal biopsy wa...

Descripción completa

Detalles Bibliográficos
Autores principales: Kashiwagi, Yasuyo, Suzuki, Shinji, Agata, Kazushi, Morishima, Yasuyuki, Inagaki, Natsuko, Numabe, Hironao, Kawashima, Hisashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450996/
https://www.ncbi.nlm.nih.gov/pubmed/30293132
http://dx.doi.org/10.1007/s13730-018-0368-4
_version_ 1783409110360784896
author Kashiwagi, Yasuyo
Suzuki, Shinji
Agata, Kazushi
Morishima, Yasuyuki
Inagaki, Natsuko
Numabe, Hironao
Kawashima, Hisashi
author_facet Kashiwagi, Yasuyo
Suzuki, Shinji
Agata, Kazushi
Morishima, Yasuyuki
Inagaki, Natsuko
Numabe, Hironao
Kawashima, Hisashi
author_sort Kashiwagi, Yasuyo
collection PubMed
description We herein report 2 Japanese patients with X-linked Alport syndrome (XLAS), with a novel variant in COL4A5. Patient 1 was a 16-year-old Japanese girl with a history of microscopic hematuria, without proteinuria, renal dysfunction, deafness, or ocular abnormalities. At 13 years of age, renal biopsy was performed; however, a diagnosis of AS was not considered. When her mother (patient 2) was 40 years of age (3 years after patient 1 underwent a renal biopsy), patient 2 was found to have asymptomatic hematuria, proteinuria, and an increased serum creatinine level, without deafness and ocular abnormalities. Subsequently, immunofluorescence staining for alpha 5 chains of type IV collagen was performed in patient 1. Pathological findings were consistent with AS, and genetic analysis demonstrated that both patients had a heterozygous mutation in COL4A5 (NM_000495.4: exon41:c.C3769T: p.Q1257X). To date, more than 900 different COL4A5 mutations have been identified; however, this variant has not been previously described. Physicians have to consider AS when they perform a renal biopsy in all patients with hematuria despite absent/present of family history, hearing loss, and ocular abnormality. Especially, when findings of light microscopy and immunofluorescence microscope are unclear, it should be considered carefully. Electron microscopy findings are very important.
format Online
Article
Text
id pubmed-6450996
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Springer Singapore
record_format MEDLINE/PubMed
spelling pubmed-64509962019-04-22 A family case of X-linked Alport syndrome patients with a novel variant in COL4A5 Kashiwagi, Yasuyo Suzuki, Shinji Agata, Kazushi Morishima, Yasuyuki Inagaki, Natsuko Numabe, Hironao Kawashima, Hisashi CEN Case Rep Case Report We herein report 2 Japanese patients with X-linked Alport syndrome (XLAS), with a novel variant in COL4A5. Patient 1 was a 16-year-old Japanese girl with a history of microscopic hematuria, without proteinuria, renal dysfunction, deafness, or ocular abnormalities. At 13 years of age, renal biopsy was performed; however, a diagnosis of AS was not considered. When her mother (patient 2) was 40 years of age (3 years after patient 1 underwent a renal biopsy), patient 2 was found to have asymptomatic hematuria, proteinuria, and an increased serum creatinine level, without deafness and ocular abnormalities. Subsequently, immunofluorescence staining for alpha 5 chains of type IV collagen was performed in patient 1. Pathological findings were consistent with AS, and genetic analysis demonstrated that both patients had a heterozygous mutation in COL4A5 (NM_000495.4: exon41:c.C3769T: p.Q1257X). To date, more than 900 different COL4A5 mutations have been identified; however, this variant has not been previously described. Physicians have to consider AS when they perform a renal biopsy in all patients with hematuria despite absent/present of family history, hearing loss, and ocular abnormality. Especially, when findings of light microscopy and immunofluorescence microscope are unclear, it should be considered carefully. Electron microscopy findings are very important. Springer Singapore 2018-10-06 /pmc/articles/PMC6450996/ /pubmed/30293132 http://dx.doi.org/10.1007/s13730-018-0368-4 Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Case Report
Kashiwagi, Yasuyo
Suzuki, Shinji
Agata, Kazushi
Morishima, Yasuyuki
Inagaki, Natsuko
Numabe, Hironao
Kawashima, Hisashi
A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
title A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
title_full A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
title_fullStr A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
title_full_unstemmed A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
title_short A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
title_sort family case of x-linked alport syndrome patients with a novel variant in col4a5
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450996/
https://www.ncbi.nlm.nih.gov/pubmed/30293132
http://dx.doi.org/10.1007/s13730-018-0368-4
work_keys_str_mv AT kashiwagiyasuyo afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT suzukishinji afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT agatakazushi afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT morishimayasuyuki afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT inagakinatsuko afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT numabehironao afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT kawashimahisashi afamilycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT kashiwagiyasuyo familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT suzukishinji familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT agatakazushi familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT morishimayasuyuki familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT inagakinatsuko familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT numabehironao familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5
AT kawashimahisashi familycaseofxlinkedalportsyndromepatientswithanovelvariantincol4a5