A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation.

Detalles Bibliográficos
Autores principales: Kirimura, Akihiro, Yasuhara, Hajime, Hachisuka, Soshi, Takagi, Kumiko, Ebisu, Reiko, Ohgitani, Ayako, Minowa, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586792/
https://www.ncbi.nlm.nih.gov/pubmed/36276610
http://dx.doi.org/10.1155/2022/1594364
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author Kirimura, Akihiro
Yasuhara, Hajime
Hachisuka, Soshi
Takagi, Kumiko
Ebisu, Reiko
Ohgitani, Ayako
Minowa, Hideki
author_facet Kirimura, Akihiro
Yasuhara, Hajime
Hachisuka, Soshi
Takagi, Kumiko
Ebisu, Reiko
Ohgitani, Ayako
Minowa, Hideki
author_sort Kirimura, Akihiro
collection PubMed
description We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation.
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spelling pubmed-95867922022-10-22 A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice Kirimura, Akihiro Yasuhara, Hajime Hachisuka, Soshi Takagi, Kumiko Ebisu, Reiko Ohgitani, Ayako Minowa, Hideki Case Rep Genet Case Report We report a patient diagnosed with a COL4A1 mutation in the early postnatal period. Patients with early postnatal jaundice, intracranial lesions that are negative for TORCH syndrome, and recurrent hemolytic anemia should be suspected of having a COL4A1/COL4A2 gene mutation. Hindawi 2022-10-14 /pmc/articles/PMC9586792/ /pubmed/36276610 http://dx.doi.org/10.1155/2022/1594364 Text en Copyright © 2022 Akihiro Kirimura et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kirimura, Akihiro
Yasuhara, Hajime
Hachisuka, Soshi
Takagi, Kumiko
Ebisu, Reiko
Ohgitani, Ayako
Minowa, Hideki
A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
title A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
title_full A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
title_fullStr A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
title_full_unstemmed A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
title_short A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
title_sort neonatal patient diagnosed with a col4a1 mutation presenting with hemorrhagic infarction and severe jaundice
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586792/
https://www.ncbi.nlm.nih.gov/pubmed/36276610
http://dx.doi.org/10.1155/2022/1594364
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