Manifestation late in life of idiopathic adulthood ductopenia

Müller, Christian; Walter, Ulrich; Penner, Edward

doi:10.1111/j.1600-0676.1995.tb00673.x

Cited by 17 publications

(4 citation statements)

References 26 publications

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“…25 IAD has mild or aggressive courses, the latter resulting in cirrhosis and liver failure. 26,27 Because monogenic diseases with cholestasis and/or ductopenia as a leading feature typically begin before adulthood, a factor implicated in childhood CLD has been postulated to cause IAD. 28 However, no gene has yet been identified.…”

Section: Discussionmentioning

confidence: 99%

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults†‡

et al. 2008

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Cholestatic liver disease (CLD) is a major cause of progressive liver damage and liver failure. Several forms of biliary cirrhosis are caused by mutations in specific genes. We sought to identify a genetic defect in a family with CLD impossible to assign to a distinct pathogenic entity. Clinical and histopathological characterization of the family members, microarraybased single-nucleotide polymorphism genotyping, and analysis of candidate genes were performed. Among six of 11 siblings severely affected by idiopathic CLD in a family from a population isolate in Transylvania, three died of cirrhosis (aged 5, 7, and 43 years) and three had adult-onset disease with small duct cholangiopathy, including ductopenia. Others were mildly affected and experienced intrahepatic cholestasis of pregnancy, miscarriages, or stillbirth. Pedigree studies revealed distant parental consanguinity. Genome-wide linkage analysis and autozygosity mapping yielded a single maximal lod-score of 3.88 on chromosome 7q21.1-7q22, excluding other genomic loci. Sequencing of ABCB4 at this locus revealed a novel missense mutation c.2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Bile from a mutation homozygote showed a reduced phosphatidylcholine/bile acid ratio, consistent with reduced ABCB4 phosphatidylcholine transport activity. Conclusion: We show that a missense mutation in ABCB4 is a cause for ductopenic CLD in adulthood. Allelic status correlated with severity of liver disease ranging from intrahepatic cholestasis of pregnancy through fibrosis to cirrhosis and death in childhood and adulthood. Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease. (HEPATOLOGY 2008;48:1157-1166

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Section: Discussionmentioning

confidence: 99%

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults†‡

et al. 2008

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“…[432][433][434] Most of these patients are young adults, although patients over 60 have been reported. 435 Nonsyndromatic paucity of bile ducts in infancy and idiopathic adulthood ductopenia may be related diseases. The outlook for younger patients with idiopathic adulthood ductopenia is poor; approximately 50% succumb to progressive liver disease or require transplantation.…”

Section: Paucity Of the Intrahepatic Bile Ductsmentioning

confidence: 99%

Developmental abnormalities and liver disease in childhood

Portmann¹,

Roberts²

2012

MacSween's Pathology of the Liver

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“…Since IAD is associated with variable etiologies, its treatment options may vary. In patients with non-progressive IAD, UDCA has been shown to improve liver enzymes [ 6 , 11 , 12 ]. On the other hand, patients with progressive diseases, and those with advanced cases, will ultimately require orthotopic liver transplantation [ 2–4 , 6 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

A Case of mild idiopathic adulthood ductopenia and brief review of literature

Kaung

Sundaram

Dhall

et al. 2014

Gastroenterology Report

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Mild idiopathic adulthood ductopenia (IAD) is a rare cholestatic disease of unknown cause and characterized by interlobular bile duct loss in less than 50% of the portal tracts. We describe the case of a middLe-aged male who presented with persistent elevation of transaminases and alkaline phosphatase. He had a normal biliary tree on endoscopic retrograde cholangiopathy and negative anti-mitochondrial antibody. His liver biopsy specimen showed chronic biliary disease, duct loss in 4 out of 15 portal tracts and prominent cholestasis. Based on the work-up, he likely had mild IAD. Liver transplantation would be necessary if his disease becomes progressive.

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Manifestation late in life of idiopathic adulthood ductopenia

Cited by 17 publications

References 26 publications

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults†‡

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults†‡

Developmental abnormalities and liver disease in childhood

A Case of mild idiopathic adulthood ductopenia and brief review of literature

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