-
Something wrong with this record ?
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic
K Kratka, M Dostalikova-Cimburova, H Michalikova, J Stransky, J Vranova, J Horak
Language English Country Great Britain
NLK
Wiley Online Library (archiv)
from 1997-01-01 to 2012-12-31
- MeSH
- Biomarkers blood MeSH
- Hepatitis C, Chronic complications MeSH
- Adult MeSH
- Ferritins analysis MeSH
- Financing, Organized MeSH
- Genetic Predisposition to Disease MeSH
- Genotype MeSH
- Hepacivirus MeSH
- Homozygote MeSH
- Middle Aged MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Histocompatibility Antigens Class I MeSH
- Mutation MeSH
- DNA Mutational Analysis MeSH
- Porphyria Cutanea Tarda genetics virology MeSH
- Iron Overload genetics complications MeSH
- Prevalence MeSH
- Chi-Square Distribution MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Case-Control Studies MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Geographicals
- Czech Republic MeSH
BACKGROUND: Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT). OBJECTIVES: To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. METHODS: Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT. RESULTS: The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0.001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT. CONCLUSIONS: There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent.
- 000
- 02324naa 2200577 a 4500
- 001
- bmc11004772
- 003
- CZ-PrNML
- 005
- 20170728103409.0
- 008
- 110309s2008 xxk e eng||
- 009
- AR
- 040 __
- $a ABA008 $b cze $c ABA008 $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Krátká, Karolína $7 xx0083597
- 245 10
- $a High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic / $c K Kratka, M Dostalikova-Cimburova, H Michalikova, J Stransky, J Vranova, J Horak
- 314 __
- $a Department of Medicine I and Center for Research of Diabetes, Metabolism and Nutrition, Third Faculty of Medicine, Charles University, Srobarova 50, 100 34 Prague 10, Czech Republic. karolinakratka@seznam.cz
- 520 9_
- $a BACKGROUND: Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT). OBJECTIVES: To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. METHODS: Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT. RESULTS: The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0.001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT. CONCLUSIONS: There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent.
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a senioři nad 80 let $7 D000369
- 650 _2
- $a biologické markery $x krev $7 D015415
- 650 _2
- $a studie případů a kontrol $7 D016022
- 650 _2
- $a rozdělení chí kvadrát $7 D016009
- 650 _2
- $a mutační analýza DNA $7 D004252
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a ferritiny $x analýza $7 D005293
- 650 _2
- $a genetická predispozice k nemoci $7 D020022
- 650 _2
- $a genotyp $7 D005838
- 650 _2
- $a Hepacivirus $7 D016174
- 650 _2
- $a chronická hepatitida C $x komplikace $7 D019698
- 650 _2
- $a MHC antigeny I. třídy $7 D015395
- 650 _2
- $a homozygot $7 D006720
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a přetížení železem $x genetika $x komplikace $7 D019190
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a membránové proteiny $x genetika $7 D008565
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a porphyria cutanea tarda $x genetika $x virologie $7 D017119
- 650 _2
- $a prevalence $7 D015995
- 650 _2
- $a financování organizované $7 D005381
- 651 _2
- $a Česká republika $7 D018153
- 700 1_
- $a Dostalíková, Markéta $7 xx0073737
- 700 1_
- $a Michalíková, Helena. $7 xx0242148
- 700 1_
- $a Stránský, Jaroslav, $d 1935- $7 nlk19990073903
- 700 1_
- $a Vránová, J. $7 _BN001575
- 700 1_
- $a Horák, Jiří $d 1945-2017 $7 jn20000401029
- 773 0_
- $t British Journal of Dermatology $w MED00009371 $g Roč. 159, č. 3 (2008), s. 585-590 $x 0007-0963
- 910 __
- $a ABA008 $b x $y 1 $z 0
- 990 __
- $a 20110414093507 $b ABA008
- 991 __
- $a 20170728103913 $b ABA008
- 999 __
- $a ok $b bmc $g 832150 $s 696810
- BAS __
- $a 3
- BMC __
- $a 2008 $b 159 $c 3 $d 585-590 $m British journal of dermatology $n Br J Dermatol $x MED00009371 $i 0007-0963
- LZP __
- $a 2011-4B/vtme
