About: Progressive familial intrahepatic cholestasis

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Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation.

Attributes	Values
rdf:type	Thing Disease yago:WikicatMembraneTransportProteinDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	Byler-Syndrom (de) Cholestase intrahépatique familiale progressive à activité gamma-glutamyl-transférase basse (fr) Progressive familial intrahepatic cholestasis (en)
rdfs:comment	Das Byler-Syndrom (auch Progressive familiäre intrahepatische Cholestase (PFIC), oder Byler-Krankheit genannt) ist eine genetisch bedingte Erkrankung der Leber (autosomal-rezessiv vererbt). Die Ausscheidung von Gallensäuren ist gestört. Man unterscheidet Typ I und Typ II. Die Behandlung besteht im Ersatz fettlöslicher Vitamine und einer speziellen Diät. Lediglich die Transplantation einer gesunden Leber führt zur Heilung. Ohne Lebertransplantation ist die Prognose allerdings schlecht: Nur wenige Kinder erreichen das Alter von zehn Jahren. (de) Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation. (en) La cholestase intrahépatique familiale progressive à activité gamma-glutamyl-transférase basse est une maladie génétique qui se manifeste sous différentes formes. La forme sévère commence de façon typique dans les premiers mois de vie par un prurit et un ictère (jaunisse), les autres manifestations comme un syndrome de malabsorption, des selles graisseuses et une insuffisance pondérale peuvent se voir avant trois mois. Ces manifestations sont parfois spontanément résolutives mais le prurit et l'insuffisance pondérale sont persistants. (fr)
foaf:name	Progressive familial intrahepatic cholestasis (en)
name	Progressive familial intrahepatic cholestasis (en)
foaf:depiction
dcterms:subject	Hepatology Diseases of liver Congenital disorders Membrane transport protein disorders
Wikipage page ID	4181146 (xsd:integer)
Wikipage revision ID	1105656914 (xsd:integer)
Link from a Wikipage to another Wikipage	Pruritus Ursodeoxycholic acid Vitamin Inheritance Intrahepatic cholestasis of pregnancy Childhood Cholestyramine Genetic disorder Cirrhosis Gene Mutations Naloxone Consanguinity Osteopenia Liver Liver biopsy Liver function tests Liver transplantation Cholestasis Suicide Pathology Phosphatidylcholine Phospholipid Malabsorption Autosomal recessive Hepatology Adolescence Diseases of liver ATP8B1 Alagille syndrome Fat Floppase Diarrhea Disease Failure to thrive Protein Congenital disorders ABCB11 ABCB4 Hepatocellular carcinoma Jaundice ATPase Membrane transport protein disorders dbr:Cholesterol Bile Bile acid Fibrosis Cholangitis Tight junction protein 2 Intestine Liver transplant Rifampin Medium-chain triglycerides
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/books/NBK1297/ https://www.ncbi.nlm.nih.gov/omim/211600
sameAs	Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:ABC_transporter_disorders
thumbnail	wiki-commons:Special:FilePath/Autorecessive.svg?width=300
DiseasesDB	29084 (xsd:integer)
OMIM	211600 (xsd:integer)

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