Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver.

IF 0.4 Q4 PEDIATRICS
Jagadeesh Menon, Mukul Vij, Naresh Shanmugam, Abdul Hakeem, Mettu Srinivas Reddy, Ilankumaran Kaliamoorthy, Mohamed Rela
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Abstract

Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fibropolycystic disease which we diagnosed in the explant liver. A 2-year-old boy was referred for liver transplantation with a diagnosis of biliary atresia (BA) and failed Kasai portoenterostomy (KPE). He had cirrhosis with portal hypertension along with synthetic failure indicated by coagulopathy and hypoalbuminemia. The child underwent liver transplant successfully. The explant liver had fibropolycystic disease confined to the perihilar liver and hilum. No pathogenic mutation was detected by whole exome sequencing. Fibropolycystic liver disease may represent a peculiar anatomical variant, which can be diagnosed by careful pathological examination of the explant liver. The neonatal presentation of hilar fibropolycystic liver disease can be misdiagnosed as BA.

Abstract Image

病因不明的肝门部纤维多囊性肝病:外植肝的启示。
肝脏纤维多囊性疾病包括一系列影响不同大小胆管的疾病,并由潜在的胆管板畸形(DPM)引起。我们遇到了一种以前未报道的DPM变异,我们诊断为外植肝的肝门纤维多囊病。一名2岁男孩因胆道闭锁(BA)和Kasai门肠造口术(KPE)失败而被转介肝移植。他有肝硬化合并门脉高压,并伴有凝血功能障碍和低白蛋白血症。这个孩子成功地接受了肝脏移植手术。移植肝有局限于肝门周围和肝门的纤维多囊性疾病。全外显子组测序未检测到致病性突变。纤维多囊性肝病可能是一种特殊的解剖变异,可以通过仔细的外植肝病理检查来诊断。新生儿肝门部纤维性多囊性肝病可误诊为BA。
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来源期刊
自引率
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发文量
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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