دورية أكاديمية
Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation
| العنوان: | Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation |
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| المؤلفون: | Ben Fredj, D., Barro, C., Joly, P., Thomassin, N., Collardeau-Frachon, S., Plantaz, D., Adjaoud, D. |
| المساهمون: | Laboratoire d'Hématologie, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB Université de Savoie Université de Chambéry ), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| المصدر: | Arch. Pediatr. ; https://hal.science/hal-02466189Test ; Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩ |
| بيانات النشر: | HAL CCSD |
| سنة النشر: | 2019 |
| المجموعة: | HAL Lyon 1 (University Claude Bernard Lyon 1) |
| مصطلحات موضوعية: | Pediatrics, Hemolysis, Cholestasis, G6PD deficiency, g6pd mutations, Hyperbilirubinemia, Liver insufficiency, New mutation, [SDV]Life Sciences [q-bio] |
| الوصف: | International audience ; We report the case of a neonate with a new, previously undescribed, glucose-6-phosphate dehydrogenase (G6PD) gene mutation, which was revealed by severe cholestasis, hyperbilirubinemia, and transient liver dysfunction. The severity of the clinical phenotype with ongoing chronic hemolytic anemia suggests that this mutation belongs to class 1 G6PD deficiency. The hemizygous mutation "c.675G\textgreaterc; p.Trp225Cys" was detected by genomic sequencing. Since severe G6PD deficiency can be revealed by cholestasis, it is important to check G6PD enzyme activity when faced with a case of liver dysfunction in the neonatal period. (C) 2019 Published by Elsevier Masson SAS on behalf of French Society of Pediatrics. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | hal-02466189; https://hal.science/hal-02466189Test; https://hal.science/hal-02466189/documentTest; https://hal.science/hal-02466189/file/S0929693X19300934.pdfTest; PII: S0929-693X(19)30093-4 |
| DOI: | 10.1016/j.arcped.2019.05.005 |
| الإتاحة: | https://doi.org/10.1016/j.arcped.2019.05.005Test https://hal.science/hal-02466189Test https://hal.science/hal-02466189/documentTest https://hal.science/hal-02466189/file/S0929693X19300934.pdfTest |
| حقوق: | http://creativecommons.org/licenses/by-ncTest/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.9BFA5214 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.arcped.2019.05.005 |
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