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43 Possible Causes for Episodic Intrahepatic Cholestasis

  • Progressive Familial Intrahepatic Cholestasis

    Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent[ncbi.nlm.nih.gov] Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis , referred to as benign recurrent[metabolomicscentre.nl] Mutations in ATP8B1 also cause benign recurrent intrahepatic cholestasis, a milder variant of the disease characterized by episodes of cholestasis.[ncbi.nlm.nih.gov]

  • Benign Recurrent Intrahepatic Cholestasis

    BRIC is a rare autosomal recessive disease characterised by prolonged episodes of intrahepatic cholestasis and pruritus alternating with periods of nearly normal liver function[ncbi.nlm.nih.gov] Abstract Ursodeoxycholic acid was administered to a patient with benign recurrent intrahepatic cholestasis to prevent cholestatic episodes.[ncbi.nlm.nih.gov] Summary This is a case report of a 36 years old man who has been suffering for 20 years from benign recurrent intrahepatic cholestasis (BRIC).[thieme-connect.com]

  • Benign Recurrent Intrahepatic Cholestasis Type 1

    Benign recurrent intrahepatic cholestasis (BRIC) is a hepatic disease characterized by episodes of hepatic dysfunction (cholestasis).[ivami.com] Mutations in ATP8B1 also cause benign recurrent intrahepatic cholestasis, a milder variant of the disease characterized by episodes of cholestasis.[thieme-connect.com] Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis , referred to as benign recurrent[metabolomicscentre.nl]

  • Intrahepatic Cholestasis

    Recurrent, self-limited episodes of cholestasis and pruritus are reminiscent of the benign recurrent intrahepatic cholestasis phenotype.[ncbi.nlm.nih.gov] RESULTS: Following treatment with PA and PE for 3 weeks with administration of methylprednisolone and Inchin-ko-to, signs and symptoms of intrahepatic cholestasis began to[ncbi.nlm.nih.gov] ), cholangiography (showing normal intra- and extrahepatic bile ducts), liver histology (revealing intrahepatic cholestasis with normal liver structure) and immunohistochemical[orpha.net]

  • Acute Fatty Liver of Pregnancy

    In two patients, pruritus started two and four weeks before AFLP, suggesting that an intrahepatic cholestasis of pregnancy preceded AFLP in those patients.[ncbi.nlm.nih.gov] Polydipsia (in nine episodes) and skin pruritus (in seven episodes) were unusual clinical findings.[ncbi.nlm.nih.gov]

  • Cholestasis

    Abstract Benign recurrent intrahepatic cholestasis (BRIC) is characterised by recurrent episodes of jaundice, severe pruritus and low or normal serum γ-glutamyltransferase[ncbi.nlm.nih.gov] ), cholangiography (showing normal intra- and extrahepatic bile ducts), liver histology (revealing intrahepatic cholestasis with normal liver structure) and immunohistochemical[orpha.net] Benign recurrent intrahepatic cholestasis is characterized by episodic jaundice and pruritus lasting for several weeks to months, with long symptom-free intervals.[clevelandclinicmeded.com]

  • Citrin Deficiency

    There was no evidence of hyperbilirubinemia or intrahepatic cholestasis in the neonatal period, and she had normal newborn screen results.[ncbi.nlm.nih.gov] The two phenotypes of citrin deficiency are citrullinemia type II (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).[genedx.com] She presented with 3 episodes of life-threatening bleeding and anemia.[ncbi.nlm.nih.gov]

  • Bile Acid Synthesis Defect with Cholestasis and Malabsorption

    , BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct[mendelian.co] cholestasis with episodic jaundice Increased serum bile acid concentration Peripheral neuropathy Nyctalopia Sensorineural hearing impairment Intraventricular hemorrhage Generalized[mendelian.co] […] disability Global developmental delay Generalized hypotonia Hearing impairment SOURCES: ORPHANET SCTID OMIM UMLS More info about GALACTOSE EPIMERASE DEFICIENCY High match CHOLESTASIS[mendelian.co]

  • Neonatal Scleroderma

    cholestasis with episodic jaundice Gene Set From HPO Gene-Disease Associations genes associated with the intrahepatic cholestasis with episodic jaundice phenotype by mapping[amp.pharm.mssm.edu] Associations genes associated with the intermittent jaundice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. intrahepatic[amp.pharm.mssm.edu]

  • Renal Impairment

    Abstract Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive condition characterized by intermittent episodes of pruritus and jaundice that may[ncbi.nlm.nih.gov]

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