A megváltozott vasanyagcsere genetikai hátterének vizsgálata krónikus májbetegségekben = The genetic background of the changes of iron metabolism in different chronic hepatic disorders

50 porphyria cutanea tardás (PCT) beteg klinikai és genetikai adatainak statisztikai értékelése történt. A HCV infekció 44%-os, ez közepesen gyakorinak mondható a nemzetközi adatokhoz viszonyítva. A HFE gén két mutációja (C282Y, H63D) betegeink 50%-ban kimutatható volt, ez a genetikai defektus PCT kialakulásában játszott szerepét alátámasztja. Vizsgálataink szerint a HCV infekció és a HFE gén mutációi PCT esetén egymástól független rizikófaktorok. A haemochromatosis (HFE) gén mutációinak szerepét vizsgáltuk a krónikus aktív C vírus (HCV) hepatitis esetén - manifeszt haemochromatosis jelenléte nélkül. Betegeinknél a C282Y mutáció allél frekvenciája: (2,87%), a H63D mutáció allél frekvenciája: 14,36% volt. Az allél frekvencia egyik mutáció esetében sem tért el a magyar egészséges populációban leírtaktól. A mutációt hordozó HCV betegeknél a szérum vas szintje és a transferrin szaturáció szignifikánsan magasabb volt mint a HFE gén vadtípusát hordozókban. A HFE gén mutációinak genetikai tesztelése ezen betegekben értékes eredménynek tűnik. Eredményeinkből levonhatói következtetések: PCT-s betegekben ajánlott a HCV és a HFE gén C282Y mutációjának rutinszerű szűrése és a környezetei faktorok közül az alkoholfogyasztás és az ösztrogén szedésének ellenőrzése. A krónikus aktív C-vírus hepatitises betegek esetében a haemochromatosis mutációk szűrésével a kialakuló májkárosodás mértéke talán csökkenthető a fokozott vastárolás esetén a vasraktárak kiürítését célzó kezelésekkel. | The clinical and genomic data from the fifty consecutive patients with porphyria cutanea tarda (PCT) were analysed. HCV infection is a moderately frequent (44%) risk factor among Hungarian PCT patients. 50% of our patients have either a C282Y or H63D mutation. Both HCV infection and HFE gene mutations are probably independent risk factors in Hungarian PCT patients. We examined the role of HFE mutations in patients with chronic active HCV infection without any clinical manifestation of haemochromatosis. Out of these 87 patients the allele frequency for C282Y mutation was 2.87 %, for the H63D 14.36%, the; frequencies were similar to those observed in Hungarian healthy subjects. Serum iron level and transferrin saturation were significantly higher in carriers than in non-carriers of the HFE mutations. The role of genetic screening for mutations in the HFE gene seems quite valuable in these patients. We established from our results the next conclusions: The screening of HCV and C282Y mutation of HFE gene and the control of alcohol abuse and taking estrogen containing medicines are proposed. The genetic screening of haemochromatosis and the reduction of increased iron content of the body may decrease the hepatic failure in the chronic HCV hepatitis

Involvement of serum retinoids and Leiden mutation in patients with esophageal, gastric, liver, pancreatic, and colorectal cancers in Hungary

AIM: To analyze the serum levels of retinoids and Leiden mutation in patients with esophageal, gastric, liver, pancreatic, and colorectal cancers. METHODS: The changes in serum levels of retinoids (vitamin A, α- and β-carotene, α- and β-cryptoxanthin, zeaxanthin, lutein) and Leiden mutation were measured by high liquid performance chromatography (HPLC) and polymerase chain reaction (PCR) in 107 patients (70 males/37 females) with esophageal (0/8), gastric (16/5), liver (8/7), pancreatic (6/4), and colorectal (30/21 including 9 patients suffering from in situ colon cancer) cancer. Fifty-seven healthy subjects (in matched groups) for controls of serum retinoids and 600 healthy blood donors for Leiden mutation were used. RESULTS: The serum levels of vitamin A and zeaxanthin were decreased significantly in all groups of patients with gastrointestinal (GI) tumors except for vitamin A in patients with pancreatic cancer. No changes were obtained in the serum levels of α- and β-carotene, α- and β-cryptoxanthin, zeaxanthin, lutein in patients with GI cancer. The prevalence of Leiden mutation significantly increased in all groups of patients with GI cancer. CONCLUSION: Retinoids (as environmental factors) are decreased significantly with increased prevalence of Leiden mutation (as a genetic factor) in patients before the clinical manifestation of histologically different (planocellular and hepatocellular carcinoma, and adenocarcinoma) GI cancer

Efficacy and safety of infliximab induction therapy in Crohn's Disease in Central Europe - a Hungarian nationwide observational study

<p>Abstract</p> <p>Background</p> <p>Infliximab (IFX) has proven to be an effective addition to the therapeutic arsenal for refractory, fistulizing, and steroid dependent Crohn's disease (CD), with efficacy in the induction and maintenance of clinical remission of CD. Our objective in this study is to report the nationwide, multicenter experience with IFX induction therapy for CD in Hungary.</p> <p>Methods</p> <p>During a 6-year-period, beginning in 2000, a total of 363 CD patients were treated with IFX as induction therapy (5 mg/kg IFX infusions given at week 0, 2 and 6) at eleven centers in Hungary in this observational study. Data analysis included patient demographics, important disease parameters and the outcome of IFX induction therapy.</p> <p>Results</p> <p>Three hundred and sixty three patients (183 women and 180 men) were treated with IFX since 2000. Mean age was 33.5 ± 11.2 years and the mean duration of disease was 6.7 ± 6.1 years. The population included 114 patients (31.4%) with therapy-refractory CD, 195 patients (53.7%) with fistulas, 16 patients (4.4%) with both therapy-refractory CD and fistulas, and 26 patients (7.2%) with steroid dependent CD. Overall response rate was 86.2% (313/363). A higher response rate was observed in patients with shorter disease duration (p = 0.05, OR:0.54, 95%CI:0.29-0.99) and concomitant immunosuppressant therapy (p = 0.05, OR: 2.03, 95%CI:0.165-0.596). Concomitant steroid treatment did not enhance the efficacy of IFX induction therapy. Adverse events included 34 allergic reactions (9.4%), 17 delayed type hypersensitivity (4.7%), 16 infections (4.4%), and 3 malignancies (0.8%).</p> <p>Conclusion</p> <p>IFX was safe and effective treatment in this cohort of Hungarian CD patients. Based on our experience co-administration of immunosuppressant therapy is suggested in patients receiving IFX induction therapy. However, concomitant steroid treatment did not enhanced the efficacy of IFX induction therapy.</p