Progressive familial intrahepatic cholestasis (Q43639): Difference between revisions
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A colestase intra-hepática familiar progressiva (PFIC) se refere a um grupo heterogêneo de transtornos autossômicos recessivos da infância que interferem na formação da bile e se apresentam com colestase de origem hepatocelular. Três tipos de PFIC foram identificados e estão relacionados a mutações nos genes do sistema de transporte hepatocelular envolvidos na formação da bile. PFIC1 e PFIC2 geralmente aparecem nos primeiros meses de vida, enquanto o início de PFIC3 também pode ocorrer mais tarde na primeira infância, na infância tardia ou mesmo durante a idade adulta jovem. | |||
| description / en | description / en | ||
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. | |||
Revision as of 10:44, 13 August 2026
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C58.03 |
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| English | Progressive familial intrahepatic cholestasis |
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. |
