Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation
| Autor: | P. Joly, Dominique Plantaz, S. Collardeau-Frachon, D. Adjaoud, N. Thomassin, C. Barro, D. Ben Fredj |
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| Přispěvatelé: | Laboratoire d'Hématologie, CHU Grenoble, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), 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]), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL) |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities [SDV]Life Sciences [q-bio] Dehydrogenase macromolecular substances Gene mutation Glucosephosphate Dehydrogenase Pediatrics Hemolysis 03 medical and health sciences g6pd mutations 0302 clinical medicine Cholestasis 030225 pediatrics Internal medicine hemic and lymphatic diseases G6PD deficiency parasitic diseases medicine Hepatic Insufficiency Humans Neonatal cholestasis Hyperbilirubinemia Liver injury business.industry New mutation Infant Newborn Liver insufficiency nutritional and metabolic diseases medicine.disease 3. Good health Endocrinology Glucosephosphate Dehydrogenase Deficiency Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation business Glucose-6-phosphate dehydrogenase deficiency |
| Zdroj: | Arch. Pediatr. Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩ |
| DOI: | 10.1016/j.arcped.2019.05.005⟩ |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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