Congenital hepatic fibrosis and cystic bile duct formation in Swiss Freiberger horses.
Abstract: Congenital hepatic fibrosis with autosomal recessive or dominant inheritance has been described in humans, cats, piglets, and dogs. In horses, only two cases of congenital hepatic fibrosis have been previously reported. This retrospective study of records from the Institute for Animal Pathology, University of Berne, identified 30 foals with liver lesions compatible with congenital hepatic fibrosis. Anamnestic data revealed clinical signs of severe liver injury in most affected animals. Pathologic examination showed severely enlarged, firm livers with thin-walled cysts. Histologically, the livers showed diffuse porto-portal bridging fibrosis with many small, irregularly formed and sometimes cystic bile ducts. All foals belonged to the Swiss Freiberger breed. Pedigree analysis revealed that the diseased animals could be traced back to one stallion. These results strongly suggest that congenital hepatic fibrosis in Swiss Freiberger horses is a recessively inherited autosomal genetic defect.
Publication Date: 2000-12-06 PubMed ID: 11105960DOI: 10.1354/vp.37-6-669Google Scholar: Lookup
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- Journal Article
Summary
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This study explores the finding of congenital hepatic fibrosis – a likely recessively inherited condition – in Swiss Freiberger breed horses, traced back to a single stallion.
Introduction
The research focuses on the study of congenital hepatic fibrosis in horses, a condition that has rarely been reported in horses previously. The condition is commonly observed in humans, cats, piglets, and dogs and is usually associated with either a recessive or dominant genetic inheritance. The incidence of congenital hepatic fibrosis is traced in the study to the Swiss Freiberger equine breed.
Study Method and Subjects
- The researchers adopted a retrospective approach, examining records from the Institute for Animal Pathology, University of Berne.
- They specifically looked into records of 30 foals that had liver lesions compatible with the characteristics of congenital hepatic fibrosis.
Findings from Anamnestic Data
- Most of the foals, all belonging to the Swiss Freiberger breed, showed clinical signs of severe liver injury.
- The livers of these foals were found to be severely enlarged, displaying firmness and having thin-walled cysts.
- Pathological examination showed that the liver tissue had diffuse porto-portal bridging fibrosis.
- The bile ducts in these livers were small, irregular in formation, and in some cases, cystic.
Genetic Inference
- The study also undertook a pedigree analysis, which revealed that the diseased animals could all be traced back to one specific stallion.
- This crucial piece of evidence suggests the possibility that the condition is not random but is likely an inherited autosomal genetic defect.
- Furthermore, the pattern of inheritance, given that it was traced back to one stallion, strongly indicates that congenital hepatic fibrosis in Swiss Freiberger horses may be a condition of recessive inheritance.
Cite This Article
APA
Haechler S, Van den Ingh TS, Rogivue C, Ehrensperger F, Welle M.
(2000).
Congenital hepatic fibrosis and cystic bile duct formation in Swiss Freiberger horses.
Vet Pathol, 37(6), 669-671.
https://doi.org/10.1354/vp.37-6-669 Publication
Researcher Affiliations
- Institut für Tierpathologie, Universität Bern, Switzerland.
MeSH Terms
- Animals
- Bile Duct Diseases / genetics
- Bile Duct Diseases / pathology
- Bile Duct Diseases / veterinary
- Cystic Duct / pathology
- Female
- Horse Diseases / congenital
- Horse Diseases / genetics
- Horse Diseases / pathology
- Horses
- Liver / pathology
- Liver Cirrhosis / congenital
- Liver Cirrhosis / genetics
- Liver Cirrhosis / pathology
- Liver Cirrhosis / veterinary
- Male
- Pedigree
- Retrospective Studies
Citations
This article has been cited 2 times.- Guerra JM, Daniel AGT, Cardoso NC, Grandi F, Queiroga F, Cogliati B. Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat.. JFMS Open Rep 2015 Jul-Dec;1(2):2055116915619191.
- Drögemüller M, Jagannathan V, Welle MM, Graubner C, Straub R, Gerber V, Burger D, Signer-Hasler H, Poncet PA, Klopfenstein S, von Niederhäusern R, Tetens J, Thaller G, Rieder S, Drögemüller C, Leeb T. Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene.. PLoS One 2014;9(10):e110125.
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