Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Budd-Chiari syndrome

Budd-Chiari syndrome is the obstruction of the venous outflow from the liver wich may be cause by intrahepathic venous stenosis or abnormalities of the vena cava interior.

Systematic

Hereditary liver disease
Aceruloplasminemia/Hypoceruloplasminemia
Budd-Chiari syndrome
JAK2
Caroli disease
Fabry disease
Genetic hyperbilirubinemia
Hemochromatosis
Hepatocellular carcinoma
Ivemark syndrome
Polycystic liver disease

References:

1.

Chung RT et. al. (2006) Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention.

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2.

Sozer S et. al. (2009) The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.

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3.

Valla D et. al. (1986) Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives. A case-control study.

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4.

Riemens SC et. al. (1995) Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology.

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5.

Mahmoud AE et. al. (1997) Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.

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6.

Gürakan F et. al. (1999) Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome.

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7.

Janssen HL et. al. (2000) Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.

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8.

Cario H et. al. (2003) Familial polycythemia vera with Budd-Chiari syndrome in childhood.

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9.

Menon KV et. al. (2004) The Budd-Chiari syndrome.

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10.

Zimmerman MA et. al. (2006) Budd-Chiari syndrome.

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Update: Sept. 26, 2018