Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS
Abstract 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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-05-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12362 |
| _version_ | 1797833219833331712 |
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| author | Bianca Peters Felix Wiemers Dominic Lenz Stefan Kölker Georg F. Hoffmann Siegmund Köhler Christian Staufner |
| author_facet | Bianca Peters Felix Wiemers Dominic Lenz Stefan Kölker Georg F. Hoffmann Siegmund Köhler Christian Staufner |
| author_sort | Bianca Peters |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-09T14:19:50Z |
| format | Article |
| id | doaj.art-a50822111df74a72b7557ea6415966c6 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-04-09T14:19:50Z |
| publishDate | 2023-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-a50822111df74a72b7557ea6415966c62023-05-05T02:40:58ZengWileyJIMD Reports2192-83122023-05-0164324625110.1002/jmd2.12362Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBASBianca Peters0Felix Wiemers1Dominic Lenz2Stefan Kölker3Georg F. Hoffmann4Siegmund Köhler5Christian Staufner6Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg GermanyCenter of Obstetrics and Gynecology University of Marburg Marburg GermanyDivision of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg GermanyDivision of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg GermanyDivision of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg GermanyCenter of Obstetrics and Gynecology University of Marburg Marburg GermanyDivision of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University of Heidelberg Heidelberg GermanyAbstract 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.https://doi.org/10.1002/jmd2.12362acute liver failurebirthinfantile liver failure syndrome type 2neuroblastoma amplified sequencepregnancy |
| spellingShingle | Bianca Peters Felix Wiemers Dominic Lenz Stefan Kölker Georg F. Hoffmann Siegmund Köhler Christian Staufner Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS JIMD Reports acute liver failure birth infantile liver failure syndrome type 2 neuroblastoma amplified sequence pregnancy |
| title | Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS |
| title_full | Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS |
| title_fullStr | Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS |
| title_full_unstemmed | Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS |
| title_short | Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS |
| title_sort | pregnancy delivery and postpartum period in infantile liver failure syndrome type 2 due to variants in nbas |
| topic | acute liver failure birth infantile liver failure syndrome type 2 neuroblastoma amplified sequence pregnancy |
| url | https://doi.org/10.1002/jmd2.12362 |
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