Prognóza, péče a terapie chronických jaterních onemocnění značně závisí na stupni a rychlosti progrese jaterní fibrózy. Dlouhá léta bylo zlatým standardem pro vyšetření pokročilosti jaterní fibrózy histologické hodnocení. Jaterní biopsie je metoda invazivní, její sériové opakování u jednoho nemocného za účelem posouzení progrese onemocnění naráží na celou řadu problémů, vč. etických. Mnoho úsilí proto bylo věnováno nalezení neinvazivního postupu, který by většinu těchto problémů odstranil. Jako velice nadějné se v posledních letech ukazují metody hodnotící jaterní elasticitu. Tyto tzv. elastografické metody využívají střižných vln šířících se jaterní tkání. Samotný princip elastografie je znám již řadu desítek let, ale až zhruba v posledním 10letí dochází k rozvoji přístrojů schopných tento princip přenést do diagnostiky v hepatologii.
Prognosis, care, and treatment of chronic liver diseases greatly depend on the degree and rate of progression of hepatic fibrosis. For many years, histological evaluation has been the gold standard for measuring the advancement of liver fibrosis. Liver biopsy is an invasive method, the serial repetition of which in a single patient raises a number of problematic issues, including ethical ones. Therefore, much effort has been devoted to finding a non-invasive procedure. A very promising method in recent years involves the evaluation of liver elasticity. These elastography-based methods use shear waves propagating through hepatic tissues to measure liver elasticity. The principle of elastography itself has been known for many decades, but has only been applied in the last decade in the development of devices capable of providing a diagnosis in hepatology.
- Keywords
- tranzientní elastografie, ultrazvuková elastografie, FibroScan®,
- MeSH
- Algorithms MeSH
- Blood Chemical Analysis MeSH
- Biomarkers MeSH
- Elasticity Imaging Techniques * classification methods utilization MeSH
- Liver Cirrhosis * diagnosis blood MeSH
- Humans MeSH
- Sensitivity and Specificity MeSH
- Severity of Illness Index MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
INTRODUCTION: Genetic mechanisms among many other factors play a crucial role in the development and progression of nonalcoholic fatty liver disease (NAFLD). The farnesoid X-receptor (FXR) regulates the expression of target genes involved in metabolic and energy homeostasis, so it can be assumed that genetic variations within the NR1H4 gene, encoding FXR, can affect the development or progression of associated diseases, including NAFLD. THE AIM: To study the association of SNP rs11110390 NR1H4 gene with the probability of development and course of NAFLD in children. MATERIALS AND METHODS: 76 children aged 9-17 years and overweight were examined. According to controlled attenuated parameter (CAP) measurement (Fibroscan®502touch) children were divided into 2 groups: group 1 consisted of 40 patients with NAFLD, group 2 was composed by 36 patients without hepatic steatosis. According to genetic testing children were divided into 3 subgroups - children with CC-, CT-, TT-genotype SNP rs11110390 NR1H4 gene. RESULTS: The frequency of TT-genotype SNP rs11110390 NR1H4 gene detection in children with NAFLD was 17.5% versus 2.8% in the control group (p NR1H4 gene the liver stiffness (p NR1H4 (p NR1H4 is associated with an increased probability of NAFLD development in children. An increase in the steatosis degree and liver stiffness in combination with increased taurine-conjugated bile acids fractions in the hepatic and gallbladder's bile, shift in cytokine balance due to a decrease in IL-10 level in children with TT-genotype SNP rs11110390 NR1H4 were observed.
- MeSH
- Child MeSH
- Liver metabolism MeSH
- Humans MeSH
- Non-alcoholic Fatty Liver Disease * genetics metabolism MeSH
- RNA-Binding Proteins metabolism MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
