Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS .

Autor: Peters B; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg Germany., Wiemers F; Center of Obstetrics and Gynecology University of Marburg Marburg Germany., Lenz D; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg Germany., Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg Germany., Hoffmann GF; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg Germany., Köhler S; Center of Obstetrics and Gynecology University of Marburg Marburg Germany., Staufner C; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg Germany.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2023 Feb 15; Vol. 64 (3), pp. 246-251. Date of Electronic Publication: 2023 Feb 15 (Print Publication: 2023).
DOI: 10.1002/jmd2.12362
Abstrakt: Biallelic pathogenic variants in the neuroblastoma amplified sequence ( NBAS ) gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals are at risk of developing life-threatening acute liver failure episodes, most likely triggered by febrile infections. Pregnancy, delivery, and the postpartum period are well known triggers of decompensation in different inherited metabolic diseases and therefore entail a potential risk also for individuals with ILFS2. We studied pregnancy, birth, and postpartum period in a woman with ILFS2 (homozygous for the NBAS variant c.2708 T > G, p.(Leu903Arg)). During two pregnancies there were no complications associated with the underlying genetic condition. Two healthy boys were born by cesarean section. To reduce the risk of fever and febrile infections, we avoided prolonged labor, epidural analgesia, and breastfeeding. Maternal body temperature and liver function were closely monitored. In case of elevated body temperature, antipyretic treatment (acetaminophen, metamizole) was given without delay. Alanine and aspartate aminotransferases as well as liver function remained normal throughout the observation period. Hence, pregnancy and childbirth are feasible in women with ILFS2 under careful monitoring.
Competing Interests: Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler and Christian Staufner declare that they have no conflict of interest.
(© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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