Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Hereditary spherocytosis

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Intrahepatic cholestasis

Impairment of bile flow due to obstruction in the small bile ducts within the liver.

Total: 2

(per page)

PMID (PMCID)
21811948	MALE
	Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.
	Wree A, Canbay A, Muller-Beissenhirtz H, Dechene A, Gerken G, Duhrsen U, Lammert F, Nuckel H. Z Gastroenterol. 2011;49(8):977-80.
	Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.
21811948	MALE
	Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.
	Wree A, Canbay A, Muller-Beissenhirtz H, Dechene A, Gerken G, Duhrsen U, Lammert F, Nuckel H. Z Gastroenterol. 2011;49(8):977-80.
	Here we report the first case of a patient with combined hereditary spherocytosis and compound heterozygous ABCB11 gene variants predisposing to intrahepatic cholestasis.