Serum iron markers in patients with chronic hepatitis C infection.

BACKGROUND: Patients with chronic hepatitis C (CHC) often have elevated serum iron markers, which may worsen liver injury. OBJECTIVES: The aim of this study was to investigate the possible correlations between iron metabolism serum markers, HCV viral load, and liver disease severity in treatment-naive patients with chronic hepatitis C infection. PATIENTS AND METHODS: Eighty five patients with untreated hepatitis C chronic infection were investigated. RESULTS: Twenty one patients (24.7%) had elevated serum iron levels, and 29 subjects (34.1%) had severe liver fibrosis. Significantly elevated levels of serum iron (P < 0.05) and ferritin (P < 0.001), associated with lower levels of TIBC (P < 0.05) were detected in patients with severe fibrosis compared to no/mild fibrosis. Severe necroinflammatory activity was also significantly correlated with serum iron (P < 0.001), TIBC (P < 0.05), and ferritin levels (P < 0.001). Using multiple linear regression analysis, serum levels of ferritin and transferrin were the independent variables selected as being good predictors for advanced fibrosis and severe necroinflammatory activity. No significant correlations were detected between HCV viral load and iron markers. CONCLUSIONS: This study revealed that serum iron markers (especially ferritin and transferrin) might be used as surrogate markers for both liver fibrosis and necroinflammatory activity.Patients with chronic hepatitis C (CHC) often have elevated serum iron markers, which may worsen liver injury.

The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.

BACKGROUND AND AIM: Wilson's disease (WD) is a rare autosomal recessive disease. More than 500 mutations have been described so far, out of which 29 in exon 14. H1069Q mutation in the exon 14 of ATP7B gene is the most frequently encountered in Europe. The aim of the present study was to evaluate the incidence of mutations occurring in exon 14 of ATP7B gene in Romanian patients referred to a tertiary gastroenterology center, with known or suspected WD and in asymptomatic first degree relatives of index cases. METHODS: 93 patients were included in the study. Exon 14 of ATP7B gene has been amplified by PCR from genomic DNA and mutations identified by sequencing. RESULTS: Only H1069Q missense mutation was detected in our study group. In patients with an established diagnosis of WD (38 cases), 34.2% were heterozygous for H1069Q and 21.1% were homozygous, with an allelic frequency of 38.1%. In paediatric WD patients (12 cases) 25% were heterozygous and 16.7% were homozygous (not significant versus adult population). Among asymptomatic first degree relatives of patients with WD (12 siblings, 25 parents) there were 40.5% cases heterozygous for H1069Q. In patients with suspected WD (17 cases), only 5.9% were heterozygous and no homozygous patient was identified. In our study group, H1069Q screening alone could not raise the Leipzig score to confirm diagnosis in patients with suspected WD or in asymptomatic first degree relatives. CONCLUSION: H1069Q mutation is highly prevalent in Romanian WD patients and first degree relatives, similar to other central and continental western European populations.

Anti C1q antibodies in cutaneous lupus erythematosus.

UNLABELLED: Autoantibodies against C1q are strongly linked to immune-complex disorders like systemic lupus erythematosus (SLE). Although anti-C1q antibodies have received much interest in the recent years, their biological functions remain unclear. Anti-C1q antibodies are strongly associated with lupus nephritis. Recent studies describe apoptosis as a key player in LE pathogenesis and C1q is an important opsonin, playing a central role in the uptake of apoptotic blebs. The aim of this study was to evaluate serum anti C1q antibodies, C1q with circulating immune complexes and correlation between serology and cutaneous apoptosis in patients with cutaneous lupus erythematosus. MATERIAL AND METHODS: 79 subjects were recruited and divided into 4 groups-13 healthy controls, 26 with discoid chronic lupus (DLE), 23 with systemic lupus erythematosus (SLE) and 17 with subacute lupus erythematosus (SCLE). Blood samples and skin punched-biopsy specimens were performed. Serum anti-C1q antibodies and C1q associated to the immune complexes concentrations were determined by ELISA. Cutaneous caspase-3 expression was evaluated by immunohistochemistry. RESULTS: SLE and SCLE patients had significantly higher levels of anti-C1q antibodies and serum C1q-CIC levels when compared to healthy controls (p < 0.05). Serum anti-C1q antibodies correlated with proteinuria in SLE patients (p < 0.05). Anti C1q antibodies levels also correlated with cutaneous caspase 3 expression in SLE and SCLE patients (both p < 0.05). CONCLUSIONS: Anti C1q antibodies might play a pathogenic role in SCLE pathogenesis and being positively associated with cutaneous apoptosis markers might be associated with a negative prognosis and secondary SLE development.