Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on <i>PKHD1</i> Gene Mutations

Molín, Jéssica; Asín, Javier; Vitoria, Arantza; Sanz, A.; Gimeno, Marina; Romero, Antonio; Sanchez, J. A. Benitez; Pinczowski, Pedro; Vázquez, Francisco José; Rodellar, Clementina; Luján, Lluís

doi:10.1177/0300985817754122

Cited by 6 publications

(5 citation statements)

References 15 publications

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“…Congenital Liver Fibrosis (CLF) is a fatal hepatic disease originally reported in Franches Montagnes horses 69 , and more recently reported in Spanish horses 70 as a Mendelian disease. However, the five reported variants (Fig.…”

Section: Discussionmentioning

confidence: 99%

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Durward-Akhurst,

Marlowe,

Schaefer

et al. 2024

Sci Rep

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Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted deleterious variants that healthy individuals carry (predicted genetic burden). Estimation of the predicted genetic burden and baseline frequencies of known deleterious or phenotype associated variants within and across the major horse breeds have not been performed. We used WGS of 605 horses across 48 breeds to identify 32,818,945 variants, demonstrate a high predicted genetic burden (median 730 variants/horse, interquartile range: 613–829), show breed differences in predicted genetic burden across 12 target breeds, and estimate the high frequencies of some previously reported disease variants. This large-scale variant catalog for a major and highly athletic domestic animal species will enhance its ability to serve as a model for human phenotypes and improves our ability to discover the bases for important equine phenotypes.

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Section: Discussionmentioning

confidence: 99%

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Durward-Akhurst,

Marlowe,

Schaefer

et al. 2024

Sci Rep

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“…5 Congenital hepatic fibrosis has been reported in dogs, cats, calves, horses, and nonhuman primates but to the authors’ knowledge has not been reported in snakes. 5,9,16,25,36 –38…”

Section: Discussionmentioning

confidence: 99%

“…5 Congenital hepatic fibrosis has been reported in dogs, cats, calves, horses, and nonhuman primates but to the authors' knowledge has not been reported in snakes. 5,9,16,25,[36][37][38] Historically, DPMs have been misdiagnosed as benign biliary neoplasms, such as biliary adenoma or biliary cystadenoma, because they share histopathologic features: tubules of well-differentiated biliary epithelium supported by moderate amounts of intervening stroma. The difficulty distinguishing DPMs from benign biliary neoplasms has made it difficult to assess the true incidence of the two processes in human and veterinary pathology.…”

Section: Discussionmentioning

confidence: 99%

Ductal Plate Malformations in Captive Snakes

2021

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Ductal plate malformations are abnormalities in the liver that arise from inappropriate or incomplete remodeling of the embryologic ductal plate. Various types of ductal plate malformations are reported in the human and veterinary literature, most commonly affecting domestic mammalian species but also fish. We investigated the occurrence and described the histopathologic features of ductal plate malformations in captive snakes. Malformations were identified in 18 snakes: 10 colubrids, 6 vipers, and 2 boids. There was no sex predilection, and the mean age was 17 years. The majority of lesions were incidental with most snakes having one or more comorbidities, most commonly neoplasia or systemic inflammation, that resulted in natural death or euthanasia. Ductal plate malformations in all livers were broadly characterized by a well-demarcated nodule of irregular bile ducts embedded within a varying amount of fibrous stroma. Malformations were further categorized based on the amount of fibrous stroma and dilation of the bile ducts as von Meyenburg complexes, cystic liver disease, and/or an intermediate hybrid subtype representative of cysts arising within von Meyenburg complexes. Histochemical and immunohistochemical staining, including Gomori’s trichome and pan-cytokeratin, respectively, were applied on select cases to confirm histologic features. Malignant transformation was not identified within this population.

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“…Mutations in the PKHD1 gene have been reported in horses with congenital hepatic fibrosis (MOLÍN et al, 2018). Most pathogenic PKHD1 variants lead to polycystic kidney and liver defects; however, in some cases, only liver symptoms are observed, as described in horses with a monogenic autosomal recessive inheritance that presents congenital hepatic fibrosis (dRÖGEMÜLLER et al, 2014).…”

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confidence: 99%

Caroli syndrome in a dog

et al. 2022

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Caroli syndrome is characterized by a combination of intrahepatic biliary ductal ectasia and congenital ductal fibrosis due to the failure of involution of ductal plates and large intrahepatic ducts. This study aims to report Caroli syndrome in a dog, with emphasis on clinical characteristics, complementary examinations, and diagnostic approach. A 1-year-old mixed-breed intact male dog was presented with a 7-day history of acute vomiting and anorexia. Clinical evaluation revealed severe jaundice, abdominal pain, dehydration, lethargy, and abdominal distension. Ultrasonography revealed hepatic cysts filled with fluid. Exploratory laparotomy was performed to clarify the imaging findings; however, the dog died shortly after surgery. Postmortem examination revealed that the liver was reduced in size and had multiple interconnected and distended saccular dilations. The bile ducts were markedly dilated and replaced a large part of the liver parenchyma. Multiple small cysts were also observed in the kidneys. Microscopically, the hepatic lesions were characterized by extensive bridging fibrosis associated with proliferating and ectatic bile ducts contiguous with the biliary tree. Marked fibrosis and small cysts were observed in the kidneys. Therefore, a final diagnosis of Caroli syndrome was made. While uncommon, this syndrome should be considered as a differential diagnosis for young dogs with biliary cysts and hepatic fibrosis.

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Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations

Cited by 6 publications

References 15 publications

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Ductal Plate Malformations in Captive Snakes

Caroli syndrome in a dog

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