ABSTRACT
Wilson's disease is a rare autosomal recessive metabolic disease. The ATB7B gene mutation results in a defect of biliary copper excretion and subsequent accumulation of copper in the liver, brain, and sclera. The usual clinical signs of Wilson's disease include hepatitis, liver cirrhosis, movement disorder, or a Kayser-Fleisher ring in the sclera, but patients occasionally present with hepatic failure or hemolytic anemia. Under such metabolic conditions, free copper induce chronic hemolysis with oxidative damage via free radical production, and chronic hemolysis, in turn, can cause secondary pigment bililary stone formation. Herein we report a case of Wilson's disease associated with cholelithiasis in a young female.
Subject(s)
Humans , Anemia, Hemolytic , Brain , Cholelithiasis , Copper , Hemolysis , Hepatitis , Hepatolenticular Degeneration , Liver , Liver Cirrhosis , Liver Failure , Metabolic Diseases , Movement Disorders , ScleraABSTRACT
Although the association of genetic polymorphisms in glutathione S-transferase(GST) and N-acetyltransferase(NAT) with bladder cancer has been reported, limited numbers of studies have been indicated the association of CYP2E1 with bladder cancer, particularly in Asian population. A hospital based case-control study was conducted in South Korean, consisting of 232 histologically confirmed prevalent bladder cancer cases and 165 controls to evaluate the association between genetic polymorphisms of CYP2E1(RsaI) and development of bladder cancer. The frequency of CYP2E1(RsaI) c1/c1 genotype in bladder cancer cases was higher than in controls; 114 of 201(56.7%) vs. 62 of 146(42.5%). Men with CYP2E1(RsaI) c1/c1 genotype had increased risk of development of bladder cancer compared to men with at least one c2 allele(OR=1.7, 95% CI=1.1-2.7). The bladder cancer risk increased as the number of c1 allele increased(p for trend=0.005). The risk increased as the amount of smoking increased(p for trend=0.009). When data were analyzed for the interaction between smoking and CYP2E1 genetic polymorphisms, smokers with c1/c1 genotype have 2.5 greater risk in development of bladder cancer(95% CI=1.0-6.2) compared to nonsmokers with c2 allele(p for interaction=0.008). Our findings suggest that the interaction between genetic polymorphisms of CYP 2E1 (RsaI, c1/c1) and smoking may play an important role for development of bladder cancer among Koreans.
Subject(s)
Humans , Male , Alleles , Asian People , Case-Control Studies , Cytochrome P-450 CYP2E1 , Cytochrome P-450 Enzyme System , Cytochromes , Genotype , Glutathione , Korea , Polymorphism, Genetic , Smoke , Smoking , Urinary Bladder Neoplasms , Urinary BladderABSTRACT
PURPOSE: Smoking and high-risk occupation are known to be the risk factors of bladder cancer. The carcinogen-metabolizing enzymes in human body such as GSTM1 and GSTT1 have also been regarded as risk factors in many cancers because the activities of those enzymes play a role in metabolizing the carcinogen. A case control study was conducted to evaluate the role of known risk factors (smoking and high-risk occupational history) and the genetic polymorphism of GSTM1 and GSIT1 in blader carcinogenesis in Korean men. MATERIALS AND METHODS: The pathologically proven bladder cancer cases were selected from three hospitals in Seoul (Seoul National University Hospital, Boramae Hospital, and Sam-Sung Medical Center) and the patients older than 40 years of age with the nonmalig nant urinary tract diseases were selected as the controls from the same hospitals. The informations of demographical characteristics, smoking, and occupational history was obtained by the trained interviewer and the genetic polymorphisms of GSTM1 and GSTT1 were assayed by multiplex PCR. The statistical analysis was performed by multiple logistic regression. RESULTS: Neither smoking nor high-risk occupational history was statistically significant risk factor of the bladder cancer. However, the GSTM1 null-type showed borderline significance (OR 1.49; 95% CI 0.92-2.41) and both GSTM1 and GSlT1 null-type was statistically significant risk factor of bladder cancer when compared with both normal genotype (OR-2.43; 95% CI 1.13-5.24) after age and smoking history were adjusted. CONCLUSION: The concurrent null-type of GSTM1 and GSTT1 increases the risk of bladder cancer in Korean men.
Subject(s)
Humans , Male , Carcinogenesis , Case-Control Studies , Genotype , Glutathione Transferase , Human Body , Logistic Models , Multiplex Polymerase Chain Reaction , Occupations , Polymorphism, Genetic , Risk Factors , Seoul , Smoke , Smoking , Urinary Bladder Neoplasms , Urinary Bladder , Urologic DiseasesABSTRACT
Churg-Strauss Syndrome is a disorder of hypereosinophilia and systemic vasculitis in subjects with asthma and allergic rhinitis. Clinically, a multiple organ system can be involved with various manifestations of disease of lung, heart, skin, musculoskeletal system, nervous system, gastrointestinal and hepatobiliary tract. We experienced a case of Churg- Strauss syndrome presenting as the appendicitis and the lower gastrointestinal bleeding in a 37-year-old male patient with acute lower abdominal pain. He also showed peripheral eosinophilia, bronchial asthma, and mononeuritis multiplex. He initially received a high dose corticosteroid and was maintained with low doses of corticosteroid, cyclophosphomide and exchange plasmapheresis.