Topic:Hepatic Function

Fasciola hepatica infection in horses in three governorates in northern Egypt: prevalence and risk factors.
Journal of equine veterinary science    August 29, 2023   104915 doi: 10.1016/j.jevs.2023.104915
Alshammari A, Gattan HS, Marzok M, Salem M, Al-Jabr OA, Selim A.Fasciola hepatica is a trematode parasite that affects wide range of mammalian hosts including horses. There are no epidemiological data on fasciolosis in Egyptian horses. Hence, the present study aimed to evaluate the seroprevalence of F. hepatica in horses using ELISA as well as assess the associated risk factors for fasciolosis infection. A total of 400 sera samples of horses from three Egyptian governorates were examined. The overall seroprevalence rate in horses was 13% and the disease was more prevalent in Qalubia (14.17%) and Gharbia (16.67%) which are located at Nile Delta. The likelih...
Pharmacokinetics, clinical efficacy and safety of acetaminophen (paracetamol) in adult horses with naturally occurring chronic lameness.
Equine veterinary journal    June 7, 2023   doi: 10.1111/evj.13959
Mercer MA, Davis JL, McKenzie HC, Byron CR, Kelleher ME, Trager L, Cecere TE, Wilson KE, Council-Troche RM, Werre SR.Acetaminophen is used clinically in horses with musculoskeletal pain; however, no studies have been performed in horses with chronic lameness. Objective: To determine the pharmacokinetics, safety and efficacy of chronic dosing of acetaminophen in horses with naturally occurring chronic lameness. Methods: Longitudinal. Methods: Twelve adult horses with chronic lameness were treated with acetaminophen (30 mg/kg PO) every 12 h for 21 days. Plasma concentrations of acetaminophen were analysed on days 7 and 21 via LC-MS/MS and noncompartmental pharmacokinetic analysis. Lameness was evaluated ...
Changes in haematological and biochemical parameters in blood serum of horses during exposition to workload stress.
Heliyon    December 13, 2022   Volume 8, Issue 12 e12241 doi: 10.1016/j.heliyon.2022.e12241
Massu00e1nyi M, Halo M, Massu00e1nyi P, Mlynekovu00e1 E, Greu0144 A, Formicki G, Halo M.Health state of animals undergoing experimental procedures is an important topic nowadays, as even the small changes can influence the outcome of entire outcomes. Main aim of the study was to evaluate the influence of horse training on variety of blood parameters including mineral profile, energy profile, hepatic profile and haematology. In the experiment, the studied group of horses underwent training programme which consisted of transportation, lounging, riding, jumping, racing, treadmill training and shoeing. Blood samples were collected and later evaluated at the beginning, in the middle a...
Use of Milk Thistle in Farm and Companion Animals: A Review.
Planta medica    October 27, 2022   Volume 89, Issue 6 584-607 doi: 10.1055/a-1969-2440
Tedesco DEA, Guerrini A.Milk thistle, , is a medicinal plant grown for its bioactive compounds with well-documented antioxidant and hepatoprotective properties. Milk thistle has a well-established pharmacological reputation for treatments of human liver disease, but it is also used in animals. This review summarizes the experimental evidence of milk thistle's effects on animals when administered as silymarin extract (feed additive) or a feed ingredient, if administered as seed or expeller/cake with the seed residue still containing the bioactive components. The use as a feed additive or feed ingredient is motivated b...
Particle Size Distribution of Plasma Lipoproteins in Donkeys from Death Valley Compared to a Sampling of Horses.
Animals : an open access journal from MDPI    October 13, 2022   Volume 12, Issue 20 2746 doi: 10.3390/ani12202746
Goodrich EL, Behling-Kelly E.The clinical evaluation of lipid metabolism in equids is often limited to the measurement of total cholesterol and triglyceride concentrations. This provides a limited picture of metabolic state and general health, given the continuous exchange of lipid species between various lipoproteins. Major lipoprotein classes in equids include high-density lipoprotein (HDL), intermediate-density lipoprotein (IDL), low-density lipoprotein (LDL), very low-density lipoprotein (VLDL), and chylomicrons (CM). Unlike large breed horses, donkeys are highly susceptible to hepatic lipidosis. Currently, serum trig...
Hepatic Enzyme Profile in Horses.
Animals : an open access journal from MDPI    March 29, 2022   Volume 12, Issue 7 861 doi: 10.3390/ani12070861
Satuu00e9 K, Miguel-Pastor L, Chicharro D, Gardu00f3n JC.For diagnostic purposes, liver enzymes are usually classified into hepatocellular and cholestatic. These two groups of equine liver-specific enzymes include sorbitol dehydrogenase (SDH), glutamate dehydrogenase (GLDH), γ-glutamyl transferase (GGT), aspartate aminotransferase (AST), lactate dehydrogenase (LDH), and alkaline phosphatase (ALP). SDH and GLDH mostly reflect hepatocellular injury and cholestasis, while GGT expresses high values in biliary necrosis or hyperplasia. Likewise, AST, LDH, and ALP also reflect hepatocellular and biliary disease, but these enzymes are not liver specific. F...
Anatomical and radiographic distribution of hepatic artery and biliary duct system applied to biochemical parameters indicative to hepatobiliary disease in Egyptian donkey (Equus asinus).
Anatomia, histologia, embryologia    February 20, 2022   Volume 51, Issue 3 355-365 doi: 10.1111/ahe.12794
Maher MA, Ahmad IM.The current study was performed on ten adult Egyptian donkeys of both sexes for anatomical and radiographic studies in addition to six other donkeys for enzymatic, biochemical and statistical analysis. The aim was to illustrate the normal hepatic arterial and biliary distribution using different anatomic techniques and radiographic imaging besides, establishing an accurate laboratory profile specific for donkeys that used as standard indicators for hepatobiliary dysfunction. The right branch of the hepatic artery in donkey forms a curved arch erupting five branches, unlike the left branch that...
Horses’ rejection behaviour towards the presence of Senecio jacobaea L. in hay.
BMC veterinary research    January 7, 2022   Volume 18, Issue 1 25 doi: 10.1186/s12917-021-03124-0
Sroka L, Mu00fcller C, Hass ML, These A, Aboling S, Vervuert I.Senecio jacobaea contains pyrrolizidine alkaloids that can induce severe hepatic intoxication in horses, either acute when ingested in high amounts or chronic when consumed over a long period. The aim of this study was to determine horses' rejection behaviour towards the presence of Senecio jacobaea in hay when fed ad libitum. We hypothesized that adult horses can sort Senecio jacobaea out of the contaminated hay when hay is fed ad libitum. Six warmblood geldings with a mean (±SD) age of 15 ± 2 years were included. In a randomized study, Senecio jacobaea contaminated hay (5% or 10% con...
Peritoneal bile acids concentration in adult horses with hepatic and gastrointestinal disorders.
Equine veterinary journal    November 19, 2021   Volume 54, Issue 5 914-921 doi: 10.1111/evj.13538
Rodru00edguez-Pozo ML, Armengou L, Viu J, Ru00edos J, Jose-Cunilleras E.Peritoneal bile acids concentration (PBAC) has not been previously reported in horses. A case of liver lobe torsion in which increased PBAC was detected prompted us to study PBAC in horses. Objective: (a) To determine a reference range of PBAC in horses; (b) to compare PBAC from horses with either hepatic or gastrointestinal disease and healthy horses and (c) to assess the prognostic and diagnostic values of PBAC. Methods: Prospective case-control. Methods: Prospective observational clinical study. Bile acids concentrations were measured in both plasma and peritoneal fluid in selected clinical...
Pre-analytical stability of sorbitol dehydrogenase in equine heparinized plasma.
Veterinary journal (London, England : 1997)    June 9, 2021   Volume 274 105706 doi: 10.1016/j.tvjl.2021.105706
Fouchu00e9 N, Oesch S, Gerber V, Richter H, Howard J, Peters LM.Sorbitol dehydrogenase (SDH) activity is one of the most sensitive and specific markers for hepatocellular injury in horses, but its reported lability makes it impractical for use in many clinical settings. To date, stability of SDH in equine samples has only been evaluated in a limited number of studies in serum samples of horses with activities within reference intervals. The objective of the study was to determine pre-analytical stability of equine SDH activity in heparinized plasma stored at different temperatures for up to 72 h. Twenty client-owned horses admitted to a veterinary teaching...
Hepatogenous photosensitization in ruminants and horses caused by the ingestion of Chamaecrista serpens in Brazil.
Toxicon : official journal of the International Society on Toxinology    January 28, 2021   Volume 193 13-20 doi: 10.1016/j.toxicon.2021.01.013
Mendonu00e7a MFF, Pimentel LA, Leal PV, Oliveira Filho JC, Caymmi LG, Silva AWO, Jesus RS, Peixoto TC.This study aimed to describe the first reports of outbreaks of hepatogenous photosensitization in cattle, sheep, and horses caused by spontaneous ingestion of Chamaecrista serpens, as well as to reproduce poisoning in sheep experimentally. Eleven photodermatitis outbreaks of unknown cause occurred in cattle, sheep and horses on nine farms in the semiarid region of Bahia, northeastern Brazil, between July 2017 and July 2020. Cutaneous lesions of photosensitization initiated until one week after the animals were introduced in paddocks invaded by the plant at the beginning of the rainy season. Th...
Efficacy of oral Cynara scolymus and Silybum marianum on toxicity of imidocarb dipropionate in horses.
Veterinary record open    November 5, 2020   Volume 7, Issue 1 e000416 doi: 10.1136/vetreco-2020-000416
Jaramillo FM, Piu00f1eros DDV, Corru00eaa RR, Pogliani FC, Cogliati B, Baccarin RYA.Despite hepatotoxic effects, imidocarb dipropionate is the drug of choice for treatment of equine piroplasmosis. It is important, therefore, to identify adjuvant therapies that may improve the safety of imidocarb dipropionate by reducing the risk of liver damage during its use. The aim of the present study was to evaluate the hepatoprotective and hepatoregulatory effects of treatment with and during administration of imidocarb dipropionate. Methods: Ten healthy horses, seroconverted to by C-ELISA, were treated with 5 mg/kg/day of imidocarb dipropionate for three consecutive days. The study ...
Prediction of pharmacokinetic clearance and potential Drug-Drug interactions for omeprazole in the horse using in vitro systems.
Xenobiotica; the fate of foreign compounds in biological systems    May 20, 2020   Volume 50, Issue 10 1220-1227 doi: 10.1080/00498254.2020.1764131
Shibany KA, Pratt SL, Aldurdunji M, Totemeyer S, Paine SW.Horses are exposed to various kinds of medication, however, there are limited determinations of plasma clearance (CL) for the drugs used due to the high cost of equine studies.Many of the CL values generated come from the equine sports industry for determining drug plasma screening limits in the control of medications at the time of competition.The kinetics of omeprazole metabolism were investigated in freshly isolated and cryopreserved equine hepatocytes and hepatic microsomes ( = 3 horses).The V, K and intrinsic clearance (CL) of omeprazole were determined via the substrate depletion me...
Clinical Pathology in the Adult Sick Horse: The Gastrointestinal System and Liver.
The Veterinary clinics of North America. Equine practice    January 22, 2020   Volume 36, Issue 1 105-120 doi: 10.1016/j.cveq.2019.11.004
DeNotta SL, Divers TJ.The gastrointestinal tract and liver comprise key components of the equine digestive system and together have important functions in metabolism, digestion, absorption, detoxification, and synthesis. Disorders of the gastrointestinal tract and liver are common in clinical practice and can cause a variety of clinical signs. Hematologic and biochemical analysis can be helpful for identifying organ dysfunction, narrowing down the differential diagnostic list, and monitoring progress and response to treatment. This article details hematologic and biochemical tests that are important in the evaluati...
Pharmacodynamic Effects of Pioglitazone on High Molecular Weight Adiponectin Concentrations and Insulin Response After Oral Sugar in Equids.
Journal of equine veterinary science    September 24, 2019   Volume 82 102797 doi: 10.1016/j.jevs.2019.102797
Legere RM, Taylor DR, Davis JL, Bello K, Parker C, Judd RL, Wooldridge AA.Chronic insulin dysregulation is challenging to manage with pharmaceuticals in horses. Pioglitazone improves insulin sensitivity in humans, and the pharmacokinetics of pioglitazone have been evaluated in horses. The objectives of this study were to assess the pharmacodynamic effects of oral pioglitazone on morphometric parameters, hepatic enzyme activity and function, adipokines, and enteroinsular response to oral sugar. A prospective pilot study was performed using fifteen adult equids (8 ponies, 7 horses) to evaluate the effects of short-term pioglitazone administration (2 mg/kg PO q 24 hou...
Clinical, hematologic, hemostatic, and serum biochemical findings related to survival in Arabian horses with colic.
Veterinary clinical pathology    September 17, 2019   Volume 48, Issue 3 441-448 doi: 10.1111/vcp.12779
Nikvand AA, Jalali SM, Ghadrdan Mashhadi A, Razi Jalali M, Hassanpour Amirabadi S.The efficacy of clinical examinations, and hematologic, hemostatic, and serum biochemical assessments to determine appropriate early medical or surgical therapy in Arabian horses with colic have not been well-described. Objective: We aimed to evaluate clinical and hematologic findings, coagulation-fibrinolytic parameters, and organ dysfunction markers in association with survival in horses with colic. Methods: Seventeen Arabian horses with colic and ten healthy horses were enrolled. After clinical examinations, including heart rates (HRs), capillary refill times (CRTs), abdominal sounds, recta...
Impact of body weight gain on hepatic metabolism and hepatic inflammatory cytokines in comparison of Shetland pony geldings and Warmblood horse geldings.
PeerJ    June 7, 2019   Volume 7 e7069 doi: 10.7717/peerj.7069
Schedlbauer C, Blaue D, Gericke M, Blu00fcher M, Starzonek J, Gittel C, Brehm W, Vervuert I.Non-alcoholic fatty liver disease is known as determining part of human obesity. The impact of body weight (BW) gain on liver metabolism has not been extensively investigated yet. Objective: To investigate hepatic alterations caused by increasing BW in ponies and horses. Methods: A total of 19 non-obese equines (10 Shetland ponies, geldings; nine Warmblood horses, geldings). Methods: Animals received 200% of their metabolizable maintenance energy requirements for 2 years. Serum alkaline phosphatase, glutamate dehydrogenase (GLDH), aspartate aminotransferase (AST), and gamma-glutamyl transferas...
Hepatic Dicrocoelium dendriticum infection in a miniature horse.
The Canadian veterinary journal = La revue veterinaire canadienne    August 15, 2018   Volume 59, Issue 8 863-865 
Hazlett M, Stalker M, Lake M, Peregrine A.A miniature horse which died following humane seizure from an Ontario farm was emaciated with serous atrophy of fat. Autopsy revealed hepatic atrophy and moderate periportal fibrosis. Eggs and trematodes seen in the liver were identified as This appears to be the first reported case of infection of equids in North America with Un cheval miniature qui est mort à la suite d’une saisie humanitaire dans une ferme de l’Ontario était émacié et avait une atrophie séreuse des tissus adipeux. L’autopsie a révélé une atrophie hépatique et une fibrose périportale modérée. Des oeufs e...
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations.
Veterinary pathology    February 5, 2018   Volume 55, Issue 3 457-461 doi: 10.1177/0300985817754122
Molu00edn J, Asu00edn J, Vitoria A, Sanz A, Gimeno M, Romero A, Su00e1nchez J, Pinczowski P, Vu00e1zquez FJ, Rodellar C, Luju00e1n L.A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to CHF in Swiss Franches-Montagnes (SFM) horses. In addition, 2 novel mutations were detected, the foal being homozygous for one of them and heterozygous for the other. Genetic studies in a healthy PSH population ( n = 35) showed a 3-fold higher gen...
Intestinal and hepatic contributions to the pharmacokinetic interaction between gamithromycin and rifampicin after single-dose and multiple-dose administration in healthy foals.
Equine veterinary journal    January 8, 2018   Volume 50, Issue 4 525-531 doi: 10.1111/evj.12796
Berlin S, Wallstabe S, Scheuch E, Oswald S, Hasan M, Wegner D, Grube M, Venner M, Ullrich A, Siegmund W.Standard treatment of foals with severe abscessing lung infection caused by Rhodococcus equi using rifampicin and a macrolide antibiotic can be compromised by extensive inhibition and/or induction of drug metabolising enzymes (e.g. CYP3A4) and transport proteins (e.g. P-glycoprotein), as has been shown for rifampicin and clarithromycin. The combination of rifampicin with the new, poorly metabolised gamithromycin, a long-acting analogue of azithromycin and tulathromycin with lower pharmacokinetic interaction potential, might be a suitable alternative. Objective: To evaluate the pharmacokinetic ...
The effects of aging on hepatic microsomal scaling factor and hepatocellularity number in the horse.
Xenobiotica; the fate of foreign compounds in biological systems    December 19, 2017   Volume 48, Issue 12 1237-1244 doi: 10.1080/00498254.2017.1413263
Shibany KA, Tu00f6temeyer S, Pratt SL, Paine SW.1. Scaling factor values for the in vitro-in vivo extrapolation of hepatic metabolic clearance for xenobiotics have not yet been determined in horses. Scaling factors were determined by comparing the total protein and or cytochrome (CYP) P450 content in microsomes and cryopreserved hepatocytes against the content in the liver. 2. Microsomal protein per gram of liver (MPPGL) and hepatocellularity number per gram of liver (HPGL) using CYP P450 content method ranged 41-73 mg/gram of liver (mean= 57 mg/gram of liver, n = 39) and 146-320 × 10 cells/g of liver (mean = 227× 10 c...
Acute hepatic steatosis: a helpful diagnostic feature in metallic phosphide-poisoned horses. Fox JH, Porter BF, Easterwood L, Hildenbrand JRV, Hu00e9lie P, Smylie J, O'Toole D.Metal phosphides, particularly zinc and aluminum phosphide, occasionally poison horses and other equids following their use as rodenticides and insecticides. Grain-based aluminum phosphide baits are used to control rodents such as prairie dogs. The clinical course in intoxicated horses is short (24 h of clinical signs) had centrilobular hepatic necrosis with congestion and a mixture of microvesicular and macrovesicular steatosis. Phosphine poisoning should be considered in horses that die acutely and are found to have steatosis, either with or without hepatocellular necrosis.
Equine hepatocytes: isolation, cryopreservation, and applications to in vitro drug metabolism studies.
Pharmacology research & perspectives    September 30, 2016   Volume 4, Issue 5 e00268 doi: 10.1002/prp2.268
Shibany KA, Tu00f6temeyer S, Pratt SL, Paine SW.Despite reports of the successful isolation of primary equine hepatocytes, there are no published data regarding the successful cryopreservation of these isolated cells. In this study, a detailed description of the procedures for isolation, cryopreservation, and recovery of equine hepatocytes are presented. Furthermore, the intrinsic clearance (Cl) and production of metabolites for three drugs were compared between freshly isolated and recovered cryopreserved hepatocytes. Primary equine hepatocytes were isolated using a two-step collagenase perfusion method, with an average cell yield of 2.47�...
Presumptive Iatrogenic Microcystin-Associated Liver Failure and Encephalopathy in a Holsteiner Gelding.
Journal of veterinary internal medicine    September 9, 2016   Volume 30, Issue 5 1747-1751 doi: 10.1111/jvim.14571
Mittelman NS, Engiles JB, Murphy L, Vudathala D, Johnson AL.An 8-year-old Holsteiner gelding was presented for evaluation of anorexia, obtundation, icterus, and mild colic signs of 48 hours duration. History, physical examination, and initial diagnostics were suggestive of hepatic disease and encephalopathy. Microcystin toxicosis was suspected based on historical administration of a cyanobacteria supplement, associated serum biochemistry abnormalities, and characteristic histopathological changes. Microcystin contamination was confirmed in both supplement containers fed to the horse. Fulminant hepatic failure and encephalopathy progressed resulting in ...
Rapid LC-MS/MS method for the determination of 4-hydroxycholesterol/cholesterol ratio in serum as endogenous biomarker for CYP3A activity in human and foals.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences    August 5, 2016   Volume 1033-1034 193-199 doi: 10.1016/j.jchromb.2016.08.006
Hasan M, Siegmund W, Oswald S.Cytochrome P450 3A (CYP) enzymes are involved in the elimination of many drugs and are known to be regulated by several environmental factors. Thus, it was the aim of this study to develop and validate an analytical method allowing estimation of the hepatic CYP3A enzyme activity using the 4-hydroxycholesterol to cholesterol ratio as an endogenous biomarker in serum. Both compounds were isolated from the biological matrix by liquid-liquid extraction using n-hexane after saponification with ethanolic sodium methoxide solution (2M) to cleave the steroids from their esterified forms without any ki...
Equine Mesenchymal Stromal Cells from Different Sources Efficiently Differentiate into Hepatocyte-Like Cells.
Tissue engineering. Part C, Methods    May 18, 2016   Volume 22, Issue 6 596-607 doi: 10.1089/ten.TEC.2015.0403
Pennington MR, Curtis TM, Divers TJ, Wagner B, Ness SL, Tennant BC, Van de Walle GR.Adult equine hepatocytes have proven challenging to culture long term in vitro as they rapidly lose their morphology and functionality, thus limiting studies on liver function and response to disease. In this study, we describe for the first time the differentiation of equine mesenchymal stromal cells (MSC) from a variety of sources into functional hepatocyte-like cells (HLC). First, we differentiated equine umbilical cord blood (UCB)-derived MSC into HLC and found that these cells exhibited a distinct polygonal morphology, stored glycogen as visualized by periodic acid Schiff's reagent staini...
Chronic active interstitial pancreatitis as a cause of transverse colonic obstruction and colic in a horse.
The Canadian veterinary journal = La revue veterinaire canadienne    November 6, 2015   Volume 56, Issue 11 1177-1180 
Lohmann KL, Allen AL.A mature Quarter horse was euthanized following colic of 3 days duration. Postmortem, the large intestine, except the descending colon, was diffusely distended and associated with adhesion of the transverse colon to the pancreas, which had changes consistent with chronic active interstitial pancreatitis. Other lesions included hepatic fibrosis, erosive gastritis, and bilateral adrenal cortical hyperplasia. Un cheval Quarter horse adulte a été euthanasié après des coliques d’une durée de 3 jours. À l’autopsie, il a été observé que le gros intestin, sauf le côlon descendant, prés...
Medical and surgical management of an intra-abdominal abscess of hepatic origin in a horse.
Journal of the American Veterinary Medical Association    June 19, 2015   Volume 247, Issue 1 98-105 doi: 10.2460/javma.247.1.98
Cypher EE, Kendall AT, Panizzi L, Stewart AJ, Taylor SL, Bodaan CJ, Riley CB, Gordon SJ, Whitfield LK.A 4-year-old Arabian-cross mare was examined because of a 48-hour history of pyrexia, lethargy, and signs of abdominal discomfort. Results: On initial evaluation, the horse was in good body condition, but febrile, tachycardic, tachypneic, and icteric and had signs of colic. Findings on CBC and serum biochemical analysis indicated marked systemic inflammation and hepatocellular damage. Serial abdominal ultrasonographic examinations revealed progressive, localized hepatic parenchymal abnormalities in the left ventral aspect of the abdomen in proximity to the left liver lobes, and eventual identi...
Serum bile acid concentrations, histopathological features, and short-, and long-term survival in horses with hepatic disease.
Journal of veterinary internal medicine    March 31, 2015   Volume 29, Issue 2 644-650 doi: 10.1111/jvim.12551
Dunkel B, Jones SA, Pinilla MJ, Foote AK.Serum bile acid concentrations (SBA) and a histopathological biopsy score [Equine Vet J 35 (2003) 534] are used prognostically in equine hepatic disease. Objective: Histopathologic features and scores, but not SBA, differ between survivors and nonsurvivors and correlate with histopathologic evidence of hepatic inflammation and fibrosis. Methods: Retrospective study. Records (1999-2011) of horses with hepatic disease diagnosed by biopsy and with concurrent measurements of SBA. Methods: Retrospective cohort study. Biopsies were examined for inflammatory cell infiltration including type and distr...
Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene.
PloS one    October 8, 2014   Volume 9, Issue 10 e110125 doi: 10.1371/journal.pone.0110125
Dru00f6gemu00fcller M, Jagannathan V, Welle MM, Graubner C, Straub R, Gerber V, Burger D, Signer-Hasler H, Poncet PA, Klopfenstein S....Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including the polycystic kidney and hepatic disease 1 (autosomal recessive) gene (PKHD1). PKHD1 represents an excellent functional candidate as variants in this gene were identified in human patients with autosoma...
1 2 3 8