Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver cirrhosis represents a state of end-stage failure that is usually fatal. The condition results in liver dysfunction, recurrent ascites, encephalopathy, renal failure, splenomegaly, bleeding, and a poor quality of life in general. With the current severe shortage of donated organs, the only available treatment in the developing countries remains palliative care. We report a case of congenital metabolic liver cirrhosis due to glycogen storage disease diagnosed at age eight. The patient, a male, received bone marrow derived mononuclear cells (BMMC) at age 16 and again at age 17 with significant improvement of his biochemical liver function tests, ascites build-up, asthenia, splenomegaly and quality of life. Furthermore, liver biopsies showed clear reduction of the inflammation and fibrosis from Ishak score dropped from 3 to 1 paralleling the symptomatic improvement of the patient.
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PMID:A case report of congenital glycogen storage liver cirrhosis treated with bone marrow derived stem cells. 2905 45

Glycogen storage disease (GSD) type IIIa (Forbes-Cori disease) can be associated with severe liver disease. A patient with GSD type IIIa may therefore be a potential candidate for liver transplantation. Progressive myopathy makes uncertain the outcome of the patient and the transplant. Herein, we report on the good results of liver transplantation up to 28 months after the transplantation in a 40-year-old man with liver cirrhosis and significant muscle weakness due to GSD type IIIa.
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PMID:Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis. 2932 39

Glycogen storage diseases (GSDs) of the liver are devastating disorders presenting with fasting hypoglycemia as well as hepatic glycogen and lipid accumulation, which could lead to long-term liver damage. Diet control is frequently utilized to manage the potentially dangerous hypoglycemia, but there is currently no effective pharmacological treatment for preventing hepatomegaly and concurrent liver metabolic abnormalities, which could lead to fibrosis, cirrhosis, and hepatocellular adenoma or carcinoma. In this study, we demonstrate that inhibition of glycogen synthesis using an RNAi approach to silence hepatic Gys2 expression effectively prevents glycogen synthesis, glycogen accumulation, hepatomegaly, fibrosis, and nodule development in a mouse model of GSD III. Mechanistically, reduction of accumulated abnormally structured glycogen prevents proliferation of hepatocytes and activation of myofibroblasts as well as infiltration of mononuclear cells. Additionally, we show that silencing Gys2 expression reduces hepatic steatosis in a mouse model of GSD type Ia, where we hypothesize that the reduction of glycogen also reduces the production of excess glucose-6-phosphate and its subsequent diversion to lipid synthesis. Our results support therapeutic silencing of GYS2 expression to prevent glycogen and lipid accumulation, which mediate initial signals that subsequently trigger cascades of long-term liver injury in GSDs.
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PMID:Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases. 2978 85

Pediatric hepatocellular carcinoma (HCC) is the second common malignant liver tumor in children after hepatoblastoma. It differs from the adult HCC in the etiological predisposition, biological behavior and lower frequency of cirrhosis. Perinatally acquired hepatitis-B virus, hepatorenal tyrosinemia, progressive familial intrahepatic cholestasis, glycogen storage disease, Alagille's syndrome and congenital portosystemic shunts are important predisposing factors. Majority of children (87%) are older than 5 years of age. Following mass immunization against hepatitis-B, there has been a drastic fall in the incidence of new cases of pediatric HCC in the Asia-Pacific region. Management is targeted on complete surgical removal either by resection or liver transplantation. There is a trend towards improving survival of children transplanted for HCC beyond Milan criteria. Chemotherapeutic regimens do not offer good results but may be helpful for down-staging of advanced HCC. Surveillance of children with chronic liver diseases with ultrasound and alpha-fetoprotein may be helpful in timely detection, intervention and overall improvement in outcome of HCC.
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PMID:Pediatric hepatocellular carcinoma. 3025 3

Background PHKG2-related liver phosphorylase kinase deficiency is inherited in autosomal recessive pattern and is a rare type of liver glycogenosis. We demonstrated the clinical presentation and genetic determinants involved in children with PHKG2- related liver phosphorylase kinase deficiency. Methodology Ten Pakistani children with liver phosphorylase kinase from seven different families, were enrolled over a period of 18 months. All regions of the PHKG2 gene spanning exons and splicing sites were evaluated through targeted exome sequencing. Variants were analyzed using different bioinformatics tools. Novel variants were reconfirmed by direct sequencing. Results Seven different variants were identified in PHKG2 gene including five novel variants: three stop codons (c.226C>T [p.R76*], c.454C>T [p.R152*] and c.958C>T [p.R320*]), one missense variant c.107C>T (p.S36F) and one splice site variant (c.557-3C>G). All five novel variants were predicted to be damaging by in Silico analysis. The variants are being transmitted through recessive pattern of inheritance except one family (two siblings) has compound heterozygotes. Laboratory data revealed elevated transaminases and triglycerides, normal creatinine phosphokinase and uric acid levels but with glycogen loaded hepatocytes on liver histology. Conclusion PHKG2 related liver phosphorylase kinase deficiency can mimic both liver glycogenosis type I (glucose-6-phosphatase deficiency) & III(amylo-1,6 glucosidase) and characterized by early childhood onset of hepatomegaly, growth restriction, elevated liver enzymes and triglycerides. Molecular analysis would be helpful in accurate diagnosis and proper treatment. The symptoms and biochemical abnormalities in liver glycogenosis due phosphorylase kinase deficiency tend to improve with proper dietary restrictions but need to be monitored for long-term complications such as liver fibrosis and cirrhosis.
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PMID:Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene. 3269 58

Ultrasound is the most common modality used to evaluate the liver. An echogenic liver is defined as increased echogenicity of the liver parenchyma compared with the renal cortex. The prevalence of echogenic liver is approximately 13% to 20%. In most clinical settings, increased liver echogenicity is simply attributed to hepatic steatosis. It is important to recognize other hepatic and systemic diseases including cirrhosis, viral hepatitis, glycogen storage disease, and hemochromatosis that may also cause an echogenic liver and to identify the associated findings to distinguish them from hepatic steatosis.
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PMID:The Echogenic Liver: Steatosis and Beyond. 3295 42


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