{"title":"新生儿COL4A1突变诊断为出血性梗死和严重黄疸。","authors":"Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa","doi":"10.1155/2022/1594364","DOIUrl":null,"url":null,"abstract":"<p><p>We report a patient diagnosed with a <i>COL4A1</i> 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 <i>COL4A1/COL4A2</i> gene mutation.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586792/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Neonatal Patient Diagnosed with a <i>COL4A1</i> Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice.\",\"authors\":\"Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa\",\"doi\":\"10.1155/2022/1594364\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a patient diagnosed with a <i>COL4A1</i> 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 <i>COL4A1/COL4A2</i> gene mutation.</p>\",\"PeriodicalId\":30325,\"journal\":{\"name\":\"Case Reports in Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-10-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586792/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2022/1594364\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2022/1594364","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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.
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