association of metabolic syndrome, insulin resistance and non-alcoholic fatty liver disease in overweight/obese children

To study the prevalence of metabolic syndrome [MS], insulin resistance [IR] and non-alcoholic fatty liver disease [NAFLD] in overweight/obese children with clinical hepatomegaly and/or raised alanine aminotransferase [ALT]. Thirty-three overweight and obese children, aged 2-13 years, presenting with hepatomegaly and/or raised ALT, were studied for the prevalence of MS, IR and NAFLD. Laboratory analysis included fasting blood glucose, serum insulin, serum triglycerides [TG], total cholesterol, high-density lipoprotein cholesterol [HDL-c], low-density lipoprotein cholesterol [LDL-c] and liver biochemical profile, in addition to liver ultrasound and liver biopsy. Twenty patients [60.6%] were labeled with MS. IR was present in 16 [48.4%]. Fifteen [44%] patients had biopsy-proven NAFLD. Patients with MS were more likely to have NAFLD by biopsy [P=0.001]. Children with NAFLD had significantly higher body mass index, waist circumference, ALT, total cholesterol, LDL-c, TG, fasting insulin, and lower HDL-c compared to patients with normal liver histology [P<0.05] and fitted more with the criteria of MS [80% vs. 44%]. IR was significantly more common among NAFLD patients [73% vs. 28%]. There is a close association between obesity, MS, IR and NAFLD. Obese children with clinical or biochemical hepatic abnormalities are prone to suffer from MS, IR and NAFLD

association of HLA class II DR B1 alleles with HCV infection in Egyptian children

Human leucocyte antigens [HLA] class II appear to play an important role in the individual's immune response to viral infection. The aim of this study is to assess the relationship between HLA class II antigens with the clinical, laboratory and histopathological state of the liver in Egyptian children and adolescents with chronic hepatitis C virus [HCV] infection. The study included 46 chronically infected HCV children and adolescents without - hepatitis B virus [HBV] nor human immunodeficiency virus - [HIV]. Their mean age was 10.4 +/- 4.23 years [3-17]. HLA-DRB typing was done by polymerase chain reaction [PCR] for the patients and 20 control subjects. Biochemical and haematological parameters were assessed as well as a liver biopsy was taken from the included patients. The most frequent alleles demonstrated among patients were DRB1*03, DRB1*04 and DRB1*13 [45.6%, 39.1% and 26.1%], respectively. Analysis of DRB1 frequencies between patients and control revealed that DRB1*15 is significantly reduced among patients when compared with the control group [p<0.01]. Patients possessing the allele DRB1*03 had significantly reduced platelet count [p=0.03], and this allele was presented to a greater extent in patients with minimal grade of inflammation. Patients with DRB1*04 had significantly low serum albumin [p=0.04] and patients with DRB1*13 had significantly high serum aspartate aminotransferase [AST] levels [p=0.05]. In Egyptian HCV-infected children, special HLA patterns were found; HLA DRB1*03 was present in nearly half of the patients, while the frequency of HLA DRB1*15 was significantly reduced among the cases in comparison to the control subjects

clinical study of Wilson's disease: the experience of a single Egyptian paediatric hepatology unit

Most paediatric patients with Wilson's disease [WD] present with hepatic manifestations, but some may have neurologic or psychiatric features. Our aim was to define the clinical, biochemical features and the outcome of therapy of a group of Egyptian children diagnosed with WD. The study was carried out at the Paediatric Hepatology Unit at Cairo University Children's Hospital, Egypt; 54 patients were diagnosed with WD from 1996 to 2009. The diagnosis was based on low serum ceruloplasmin levels, increased urinary copper concentrations before or after D-penicillamine challenge and/or the presence of Kayser-Fleischer [K-F] rings. The clinical presentation was as follows: hepatic presentation in 33 patients [61%], hepato-neurologic 3 [5.5%], neurologic 5 [9.3%] and presymptomatic 13 [24%]. Twelve couples had more than one affected sib. Increased urinary copper concentrations before or after D-penicillamine challenge was found in all patients, low serum ceruloplasmin in 97% and K-F rings in 31.5%. All patients were treated with penicillamine and zinc sulphate except one presymptomatic case who was treated with zinc sulphate only. Three patients underwent liver transplantation and eight patients died after a median duration of treatment of 6 months [1-36]. The hepatic symptoms improved with treatment but the neurological symptoms remained stationary. Clinical and biochemical assays remain the standard for diagnosis of WD. Penicillamine and zinc therapy can effectively treat WD with hepatic symptoms. Liver transplantation remains life saving for those with fulminant and end stage WD. Screening for presymptomatic sibs is of utmost importance

Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children

Polymorphisms in the promoter of microsomal triglyceride transfer protein [MTP] lead to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. Therefore, functional polymorphisms in MTP may be involved in determining susceptibility to nonalcoholic steatohepatitis [NASH]. The aim of this study is to examine the effect of some genetic influences among a group of obese Egyptian children. A cross-sectional study was conducted on 76 overweight and obese children presenting to the Pediatric Endocrinology Unit, Cairo University Children's Hospital, Egypt, as well as on 20 healthy controls. Anthropometric measurements were taken for all the patients and they underwent clinical examination, ultrasonographic examination of the liver, and liver biopsy when appropriate. Liver functions, blood glucose, serum insulin, C-peptide, and lipid profile were assessed and HOMA-IR calculated. Blood samples from biopsy-proven NASH patients and controls were analyzed by polymerase chain reaction [PCR] and restriction fragment length polymorphism for the -493 G/T polymorphism in the promoter of MTP and the 1183 T/C polymorphism in the mitochondrial targeting sequence of manganese superoxide dismutase [MnSOD]. Eight had biopsy-proven simple steatosis and 7 had NASH. NASH patients had a much higher incidence of the MTP G/G genotype [P = 0.002, CI: 2.9-392] compared with the controls. NASH patients also had a 100% prevalence of the MnSOD T/T genotype. Certain genotypes in MTP and MnSOD are significantly more prevalent among obese children with NASH and may be responsible for such a phenotype