Progressive familial intrahepatic cholestasis type 1 (Q67674): Difference between revisions
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Colestase intra-hepática familiar progressiva tipo 1 (PFIC1), um tipo de colestase intra-hepática familiar progressiva (PFIC), é um transtorno hereditário infantil da formação da bile, de origem hepatocelular, e associado a características extra-hepáticas. É caracterizada por colestase levando à doença hepática em estágio terminal antes da idade adulta. As características extra-hepáticas incluem baixa estatura persistente, diarreia aquosa, pancreatite e surdez neurossensorial. | |||
| description / en | description / en | ||
Progressive familial intrahepatic cholestasis type1 (PFIC1), a type of progressive familial intrahepatic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. it is characterised by cholestasis leading to end-stage liver disease before adulthood. Extrahepatic features include persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness. | |||
Revision as of 15:30, 14 August 2026
Progressive familial intrahepatic cholestasis type1 (PFIC1), a type of progressive familial intrahepatic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. it is characterised by cholestasis leading to end-stage liver disease before adulthood. Extrahepatic features include persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1414850183 |
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| English | Progressive familial intrahepatic cholestasis type 1 |
Progressive familial intrahepatic cholestasis type1 (PFIC1), a type of progressive familial intrahepatic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. it is characterised by cholestasis leading to end-stage liver disease before adulthood. Extrahepatic features include persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness. |
