A Neonatal Patient Diagnosed with a <i>COL4A1</i> Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice.

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.

Kirimura, Akihiro; Yasuhara, Hajime; Hachisuka, Soshi; Takagi, Kumiko; Ebisu, Reiko; Ohgitani, Ayako; Minowa, Hideki.

Afiliação

Kirimura A; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.
Yasuhara H; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.
Hachisuka S; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.
Takagi K; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.
Ebisu R; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.
Ohgitani A; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.
Minowa H; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan.

Case Rep Genet ; 2022: 1594364, 2022.

Article em En | MEDLINE | ID: mdl-36276610

ABSTRACT

ABSTRACT

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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Case Rep Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão

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