妊娠Fanconi-Bickel综合征的多学科管理和个性化护理:1例报告和文献复习。

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL
International Medical Case Reports Journal Pub Date : 2025-09-22 eCollection Date: 2025-01-01 DOI:10.2147/IMCRJ.S531843
Kamal Abu Jabal, Karine Beiruti Wiegler, Inshirah Sgayer, Maya Frank Wolf, George Jeries, Younes Bathish
{"title":"妊娠Fanconi-Bickel综合征的多学科管理和个性化护理:1例报告和文献复习。","authors":"Kamal Abu Jabal, Karine Beiruti Wiegler, Inshirah Sgayer, Maya Frank Wolf, George Jeries, Younes Bathish","doi":"10.2147/IMCRJ.S531843","DOIUrl":null,"url":null,"abstract":"<p><p>Fanconi-Bickel syndrome (FBS) is a rare genetic disorder characterized by impaired glucose and galactose transport due to mutations in the SLC2A2 gene. It presents a broad phenotypic spectrum with initial nonspecific symptoms, often leading to missing or delayed diagnosis. The most common manifestations include failure to thrive, hepatomegaly, fasting hypoglycemia, postprandial hyperglycemia, significant glycosuria, proximal tubular nephropathy, osteoporosis and nutritional rickets. This study presents a rare case of pregnancy with FBS complicated with intrahepatic cholestasis and postprandial hyperglycemia, highlighting the challenges and complexities involved in managing such a high-risk pregnancy. A multidisciplinary team, including specialists in hepatology, nephrology, endocrinology, maternal-fetal medicine, and neonatology, collaborated to ensure optimal maternal and fetal outcomes. Through meticulous monitoring and individualized treatment strategies, pregnancy was successfully carried out at 37 weeks of gestation, culminating in favorable maternal and neonatal outcomes. All previously published cases of FBS were identified and compared to our case for a comprehensive analysis. This case highlights the critical role of specialized, multidisciplinary care in managing rare metabolic disorders during high-risk pregnancies and expands our current understanding of FBS treatment approaches and the management of specific manifestations. This underscores the need for a systematic approach to patient evaluation and management, ensuring timely identification of complications and tailored interventions to optimize maternal and fetal outcomes.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"1237-1245"},"PeriodicalIF":0.7000,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467160/pdf/","citationCount":"0","resultStr":"{\"title\":\"Multidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature.\",\"authors\":\"Kamal Abu Jabal, Karine Beiruti Wiegler, Inshirah Sgayer, Maya Frank Wolf, George Jeries, Younes Bathish\",\"doi\":\"10.2147/IMCRJ.S531843\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fanconi-Bickel syndrome (FBS) is a rare genetic disorder characterized by impaired glucose and galactose transport due to mutations in the SLC2A2 gene. It presents a broad phenotypic spectrum with initial nonspecific symptoms, often leading to missing or delayed diagnosis. The most common manifestations include failure to thrive, hepatomegaly, fasting hypoglycemia, postprandial hyperglycemia, significant glycosuria, proximal tubular nephropathy, osteoporosis and nutritional rickets. This study presents a rare case of pregnancy with FBS complicated with intrahepatic cholestasis and postprandial hyperglycemia, highlighting the challenges and complexities involved in managing such a high-risk pregnancy. A multidisciplinary team, including specialists in hepatology, nephrology, endocrinology, maternal-fetal medicine, and neonatology, collaborated to ensure optimal maternal and fetal outcomes. Through meticulous monitoring and individualized treatment strategies, pregnancy was successfully carried out at 37 weeks of gestation, culminating in favorable maternal and neonatal outcomes. All previously published cases of FBS were identified and compared to our case for a comprehensive analysis. This case highlights the critical role of specialized, multidisciplinary care in managing rare metabolic disorders during high-risk pregnancies and expands our current understanding of FBS treatment approaches and the management of specific manifestations. This underscores the need for a systematic approach to patient evaluation and management, ensuring timely identification of complications and tailored interventions to optimize maternal and fetal outcomes.</p>\",\"PeriodicalId\":14337,\"journal\":{\"name\":\"International Medical Case Reports Journal\",\"volume\":\"18 \",\"pages\":\"1237-1245\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-09-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467160/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Medical Case Reports Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/IMCRJ.S531843\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Medical Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/IMCRJ.S531843","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

Fanconi-Bickel综合征(FBS)是一种罕见的遗传性疾病,其特征是由于SLC2A2基因突变导致葡萄糖和半乳糖转运受损。它表现出广泛的表型谱,最初的非特异性症状,经常导致漏诊或延迟诊断。最常见的表现包括发育不全、肝肿大、空腹低血糖、餐后高血糖、明显的糖尿、近端肾小管肾病、骨质疏松和营养性佝偻病。本研究报告了一例罕见的妊娠FBS合并肝内胆汁淤积和餐后高血糖的病例,强调了管理这种高危妊娠的挑战和复杂性。包括肝病学、肾脏病学、内分泌学、母胎医学和新生儿学专家在内的多学科团队通力合作,确保了最佳的母婴预后。通过细致的监测和个性化的治疗策略,妊娠成功地进行了37周,最终取得了良好的孕产妇和新生儿结局。所有先前发表的FBS病例被确定并与我们的病例进行比较,以进行全面分析。本病例强调了在高危妊娠期间管理罕见代谢紊乱的专业、多学科护理的关键作用,并扩展了我们目前对FBS治疗方法和特定表现管理的理解。这强调了需要对患者进行系统的评估和管理,确保及时发现并发症和有针对性的干预措施,以优化孕产妇和胎儿的结局。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Multidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature.

Fanconi-Bickel syndrome (FBS) is a rare genetic disorder characterized by impaired glucose and galactose transport due to mutations in the SLC2A2 gene. It presents a broad phenotypic spectrum with initial nonspecific symptoms, often leading to missing or delayed diagnosis. The most common manifestations include failure to thrive, hepatomegaly, fasting hypoglycemia, postprandial hyperglycemia, significant glycosuria, proximal tubular nephropathy, osteoporosis and nutritional rickets. This study presents a rare case of pregnancy with FBS complicated with intrahepatic cholestasis and postprandial hyperglycemia, highlighting the challenges and complexities involved in managing such a high-risk pregnancy. A multidisciplinary team, including specialists in hepatology, nephrology, endocrinology, maternal-fetal medicine, and neonatology, collaborated to ensure optimal maternal and fetal outcomes. Through meticulous monitoring and individualized treatment strategies, pregnancy was successfully carried out at 37 weeks of gestation, culminating in favorable maternal and neonatal outcomes. All previously published cases of FBS were identified and compared to our case for a comprehensive analysis. This case highlights the critical role of specialized, multidisciplinary care in managing rare metabolic disorders during high-risk pregnancies and expands our current understanding of FBS treatment approaches and the management of specific manifestations. This underscores the need for a systematic approach to patient evaluation and management, ensuring timely identification of complications and tailored interventions to optimize maternal and fetal outcomes.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
International Medical Case Reports Journal
International Medical Case Reports Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
1.40
自引率
0.00%
发文量
135
审稿时长
16 weeks
期刊介绍: International Medical Case Reports Journal is an international, peer-reviewed, open access, online journal publishing original case reports from all medical specialties. Submissions should not normally exceed 3,000 words or 4 published pages including figures, diagrams and references. As of 1st April 2019, the International Medical Case Reports Journal will no longer consider meta-analyses for publication.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信