Genetic Causes of Liver Disease

This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults.
Source: Medical Clinics of North America - Category: Primary Care Authors: Source Type: research

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Publication date: Available online 12 November 2019Source: Food BioscienceAuthor(s): Zhihui Yu, Ning Wang, Fang Geng, Meihu MaAbstractObesity induced by consuming a high-fat diet (HFD) is a major risk for nonalcoholic fatty liver disease, which has become a worldwide health problem. To study the effects of high-density lipoproteins of egg yolk (EYHDL) on mice with HFD induced obesity, lipidomic analyses using ultra performance liquid chromatography/tandem mass spectrometry (UPLC-MS/MS) was done with serum and liver samples on 60 and 100 days. The results showed that EYHDL significantly alleviated mouse obesity by decreasin...
Source: Food Bioscience - Category: Food Science Source Type: research
Conclusions: The results obtained from these 5 cases demonstrate impressive tumor control from the combination of SBRT and checkpoint inhibitors in patients with large tumors of advanced HCC. Further prospective trials are warranted.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
ConclusionQHD inhibits LPS gut-leakage in NASH, which is associated with downregulation of intestinal MAPK pathway.Graphical abstract
Source: Phytomedicine - Category: Drugs & Pharmacology Source Type: research
According to a study presented at the Society for Endocrinology annual conference in Brighton, liver disease during pregnancy may alter gut bacteria composition and increase risk of childhood obesity.Scienmag
Source: Society for Endocrinology - Category: Endocrinology Source Type: news
ra Grieco The biological clock controls at the molecular level several aspects of mammalian physiology, by regulating daily oscillations of crucial biological processes such as nutrient metabolism in the liver. Disruption of the circadian clock circuitry has recently been identified as an independent risk factor for cancer and classified as a potential group 2A carcinogen to humans. Hepatocellular carcinoma (HCC) is the prevailing histological type of primary liver cancer, one of the most important causes of cancer-related death worldwide. HCC onset and progression is related to B and C viral hepatitis, alcoholic an...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
AbstractNon-alcoholic fatty liver disease (NAFLD) is highly prevalent among individuals with type 2 diabetes. Although epidemiological studies have shown that NAFLD is associated with cardiovascular disease (CVD), it remains unknown whether NAFLD is an active contributor or an innocent bystander. Plasma lipids, low-grade inflammation, impaired fibrinolysis and hepatokines are potential mediators of the relationship between NAFLD and CVD. The Mendelian randomisation approach can help to make causal inferences. Studies that used common variants inPNPLA3,TM6SF2 andGCKR as instruments to investigate the relationship between NA...
Source: Diabetologia - Category: Endocrinology Source Type: research
(PSC) is a chronic, immune-mediated cholestatic liver disease caused by diffuse inflammation and fibrosis that can involve the entire biliary tree. The progressive pathological process obliterates intrahepatic and extrahepatic bile ducts, ultimately leading to biliary cirrhosis, portal hypertension and hepatic failure. The cause is unknown but it is closely associated with inflammatory bowel disease (IBD), particularly ulcerative colitis, which occurs in about 70% of patients.
Source: Medicine - Category: Internal Medicine Authors: Tags: Autoimmune liver disease Source Type: research
AbstractAlcohol use disorder is the most common cause of advanced liver disease in the Western world. Diagnosis of alcohol use disorder can be difficult because patients with liver disease tend to deny alcohol intake for the fear of being excluded from treatment and because available biomarkers of alcohol intake have poor specificity in these patients. Alcohol abstinence is the cornerstone of the therapy in these patients. However, pharmacological treatments for alcohol use disorders have not been formally tested in patients with advanced liver disease, except for baclofen. Psychosocial intervention became crucial in these...
Source: Neurotherapeutics - Category: Neurology Source Type: research
AbstractPurpose of ReviewTo review the available modalities for quantification of liver fat in nonalcoholic fatty liver disease (NAFLD) and their clinical significance.Recent FindingsUltrasonography remains the first line imaging used to diagnose NAFLD as it is widely available and relatively inexpensive. Controlled attenuation parameter can be used as a screening tool for fatty liver as it is reasonably accurate and provides simultaneous estimation of hepatic fibrosis. Magnetic resonance imaging proton density fat fraction and magnetic resonance spectroscopy are the most accurate noninvasive modalities for quantification ...
Source: Current Hepatitis Reports - Category: Infectious Diseases Source Type: research
AbstractPBC is a chronic progressive autoimmune disorder involving the destruction of intrahepatic small bile ducts, cholestasis, fibrosis, and ultimately cirrhosis if left untreated. It is largely driven by the autoimmune response, but bile acids and the intestinal microbiota are implicated in disease progression as well. The only drugs licensed for PBC are UDCA and OCA. UDCA as a first-line and OCA as a second-line therapy are safe and effective, but the lack of response in a significant portion of patients and inadequate control of symptoms such as fatigue and pruritus remain as concerns. Liver transplantation is an end...
Source: Clinical Reviews in Allergy and Immunology - Category: Allergy & Immunology Source Type: research
More News: Alpha-1 Antitrypsin Deficiency | Brain | Cholestasis | Genetics | Liver | Liver Disease | Neurology | Non-alcoholic Fatty Liver Diseases (NAFLD) | Obstetric Cholestasis | Primary Care | Rare Diseases | Urology & Nephrology | Wilson's Disease