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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2018
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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 |
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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 |
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