肝活检导致fontan相关性肝病患者偶然诊断为糖原储存病IX型

Erin Hyer, Caitlin Alexander, Elizabeth B. Rand, Tamir Diamond
{"title":"肝活检导致fontan相关性肝病患者偶然诊断为糖原储存病IX型","authors":"Erin Hyer, Caitlin Alexander, Elizabeth B. Rand, Tamir Diamond","doi":"10.1097/pg9.0000000000000377","DOIUrl":null,"url":null,"abstract":"Fontan-associated liver disease (FALD) is a form of congestive hepatopathy resulting from Fontan palliation procedures in patients with single ventricle physiology. Although there is variation between pediatric centers, the surveillance for FALD may include liver biopsies for assessment of degree of fibrosis. Our report describes a 7-year-old girl with hypoplastic left heart syndrome who underwent Fontan palliation at age 2, and presented with disproportionate hepatomegaly, elevated liver enzymes, and increased stiffness on liver elastography. Liver biopsy showed diffuse hepatocellular cytoplasmic glycogenation, leading to the diagnosis of glycogen storage disease IX. This case demonstrates the importance of investigating unexpected physical exam findings and the potential for serendipitous benefit of liver biopsy in FALD.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"3 5","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease\",\"authors\":\"Erin Hyer, Caitlin Alexander, Elizabeth B. Rand, Tamir Diamond\",\"doi\":\"10.1097/pg9.0000000000000377\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Fontan-associated liver disease (FALD) is a form of congestive hepatopathy resulting from Fontan palliation procedures in patients with single ventricle physiology. Although there is variation between pediatric centers, the surveillance for FALD may include liver biopsies for assessment of degree of fibrosis. Our report describes a 7-year-old girl with hypoplastic left heart syndrome who underwent Fontan palliation at age 2, and presented with disproportionate hepatomegaly, elevated liver enzymes, and increased stiffness on liver elastography. Liver biopsy showed diffuse hepatocellular cytoplasmic glycogenation, leading to the diagnosis of glycogen storage disease IX. This case demonstrates the importance of investigating unexpected physical exam findings and the potential for serendipitous benefit of liver biopsy in FALD.\",\"PeriodicalId\":17618,\"journal\":{\"name\":\"JPGN Reports\",\"volume\":\"3 5\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-10-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JPGN Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/pg9.0000000000000377\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JPGN Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/pg9.0000000000000377","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

Fontan相关性肝病(FALD)是一种充血性肝病,由Fontan姑息治疗程序引起的单心室生理学患者。尽管各儿科中心存在差异,但对FALD的监测可能包括肝活检,以评估纤维化程度。我们的报告描述了一个患有左心发育不全综合征的7岁女孩,她在2岁时接受了Fontan姑息治疗,并在肝弹性图上表现为不成比例的肝肿大,肝酶升高,僵硬度增加。肝活检显示弥漫性肝细胞胞浆糖原形成,诊断为糖原储存病IX。本病例显示了调查意外体检结果的重要性,以及在FALD中肝活检可能带来的意外益处。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease
Fontan-associated liver disease (FALD) is a form of congestive hepatopathy resulting from Fontan palliation procedures in patients with single ventricle physiology. Although there is variation between pediatric centers, the surveillance for FALD may include liver biopsies for assessment of degree of fibrosis. Our report describes a 7-year-old girl with hypoplastic left heart syndrome who underwent Fontan palliation at age 2, and presented with disproportionate hepatomegaly, elevated liver enzymes, and increased stiffness on liver elastography. Liver biopsy showed diffuse hepatocellular cytoplasmic glycogenation, leading to the diagnosis of glycogen storage disease IX. This case demonstrates the importance of investigating unexpected physical exam findings and the potential for serendipitous benefit of liver biopsy in FALD.
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
自引率
0.00%
发文量
0
期刊最新文献
‘You can be as vigilant as you can, yet they make their way in’: A descriptive study of parent and caregiver perspectives towards keeping children safe from button batteries Co‐occurrence of collagenous gastrointestinal disease in siblings in early childhood: New insight into a rare condition Impact of gender, race, and age of onset on the phenotype and comorbidities of pediatric eosinophilic esophagitis Pediatric eosinophilic gastritis treated with benralizumab: A case report B cell depletion for autoimmune liver diseases: A retrospective review of indications and outcomes
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1