Successful Treatment with Colestimide for a Bout of Cholestasis in a Japanese Patient with Benign Recurrent Intrahepatic Cholestasis Caused by ATP8B1 Mutation
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چکیده
منابع مشابه
Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected...
متن کاملATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
BACKGROUND Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholesta...
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this report presents an 11 year-old girl with benign recurrent cholestasis (bric) who developed episodes of severe jaundice and pruritus at the ages of 2.5 and 10 years. each episode lasted for 3-4 months. the peak level of serum bilirubin reached 33-37 mg/dl.liver function tests were all normal during the attack except for increased alkaline phosphatase and prolonged prothrombin time responsiv...
متن کاملIntrahepatic Cholestasis Caused by Citrin Deficiency
Citrullinemia is the earliest identifiable biochemical abnormality in 13 neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has 14 been included in newborn screening panels using tandem mass spectrometry. 15 However, only one neonate was positive among 600,000 infants born in Sapporo 16 city and Hokkaido, Japan between 2006 and 2017. We investigated 12 neonates wit...
متن کاملA Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
BACKGROUND Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION A novel, homozygous mutation (c.[589_592inv;592_593insA])...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2008
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.47.0534