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)

HHC is the most common inherited metabolic disease among the white population worldwide, with a gene frequency of about 10% and a frequency of homozygosity of about 1 of 250. Many patients harbor a common haplotype of informative markers on chromosome 6p2l.23, suggesting a strong founder effect exerted by a common Celtic ancestor. With the advent of screening tests (serum Tf saturation, fe), many subjects with HHC are being identified before development of cirrhosis or diabetes mellitus, and early detection is important because prompt and vigorous iron reduction prevents development of such complications and assures normal life expectancy. The HIC can be estimated as accurately by specialized magnetic resonance imaging or susceptometric measurements as by chemical measurements on liver biopsy specimens. However, biopsy specimens retain value for showing fibrosis/cirrhosis and dysplastic hepatocytes, both of which increase risks of HCC development. There is growing evidence that iron in the liver plays an important role in non-HHC diseases, such as alcoholic liver disease, chronic viral hepatitis, and porphyria cutanea tarda. The complicated, manifold roles of iron in pathogenesis of the latter disorder include enhancement of production and irreversible oxidation of uroporphyrinogen, as well as formation of an inhibitor targeted specifically at hepatic uroporphyrinogen decarboxylase. The nature of the gene and gene product that are abnormal in HHC remain elusive, despite the intense efforts of several investigative groups. The search has been hampered by a dearth of informative markers in HHC patients in the relevant region of chromosome 6p. Note added in proof: The cloning of a candidate gene, the mutation of which may perhaps cause HLA-linked hemochromatosis, has just been reported (Feder et al: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature (Genetics) 1996;399-408). These workers identified a 250-kb region move than three megabases telomeric of the MHC that was identical in 85% of chromosomes of HHC patients. Within this region, they identified a gene related to the MHC class I family, termed HLA-H, containing two missense alterations one of which is predicted to inactivate this class of proteins. 83% of 178 patients were homozygous for this mutation (Cys 282Tyr). This variant was also found on 3.2% of control chromosomes, as would be expected for such a common disorder. Functional studies are awaited with great interest.
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PMID:An update on iron metabolism: summary of the Fifth International Conference on Disorders of Iron Metabolism. 878 49

HHC is a common inherited disorder, characterized by iron accumulation in the liver, heart, pancreas, and other organs. The clinical consequences of systemic iron loading are diverse and not always improved with iron reduction therapy. The most important prognostic factor at the time of diagnosis is the presence or absence of hepatic fibrosis or cirrhosis. Those without significant hepatic fibrosis may be expected to have a normal life expectancy with phlebotomy therapy. The availability of genetic testing for HHC has significantly changed the diagnostic approach to this disorder. Although liver biopsy remains vital to determining prognosis, genetic testing is increasingly used in the diagnosis and family screening of patients with HHC.
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PMID:Clinical management of iron overload. 989 1

Nonalcoholic fatty liver disease (NAFLD) is becoming one of the most important causes for chronic liver disease and also hepatocellular carcinoma (HCC) in Sri Lanka. This tendency is also recognized worldwide. More than half of the middle-aged and elderly adults in urban Sri Lanka have ultrasonic evidence of NAFLD. The NAFLD is also identified in population from rural areas of Sri Lanka and also in children. Nonalcoholic steatohepatitis (NASH) cirrhosis is the most common cause of referral for liver transplantation in Sri Lankans. The NASH is also the most common cause for rejecting potential donors for liver transplantation in Sri Lanka. Patients who underwent liver transplantation for cryptogenic cirrhosis developed evidence of NASH following liver transplantation. Recent evidence suggests that there is a genetic component to NAFLD. PNPLA3, a single gene polymorphism linked to the short arm of chromosome 22, is associated with the severity of NAFLD. The presence of this genetic polymorphism appears to carry higher risk of patients with NAFLD developing NASH with fibrosis cirrhosis and hepatocellular carcinoma. In a large population-based study from Sri Lanka, there was a tendency to develop NAFLD associated with this genetic polymorphism. In a population-based study, NAFLD was identified as an independent risk factor for development of diabetes. This association is recognized worldwide now. Most patients with HHC in Sri Lanka developed it on a back ground of cryptogenic cirrhosis. At the same time, the prevalence of the markers for hepatitis B and C was rare in Sri Lankan patients with HCC. How to cite this article: Dassanayake AS. Nonalcoholic Fatty Liver Disease: Identifying the Disease Burden in Sri Lanka. Euroasian J Hepato-Gastroenterol 2018;8(1):69-72.
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PMID:Nonalcoholic Fatty Liver Disease: Identifying the Disease Burden in Sri Lanka. 2996 67