Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations
نویسندگان
چکیده
منابع مشابه
"an iranian girl with benign recurrent intrahepatic cholestasis "
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...
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PURPOSE The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic disease...
متن کاملBenign 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 کاملDiagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing
Intrahepatic cholestasis represents a heterogeneous group of disorders that begin during childhood, most commonly manifesting as neonatal cholestasis, and lead to ongoing liver dysfunction in children and adults. For children, inherited pathogenic factors of cholestasis have gained increasing attention owing to the rapid development of molecular biology technology. However, these methods have t...
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BACKGROUND BSEP disease results from mutations in ABCB11, which encodes the bile salt export pump (BSEP). BSEP disease is associated with an increased risk of hepatobiliary cancer. CASE PRESENTATION A 36 year old woman with BSEP disease developed pancreatic adenocarcinoma at age 36. She had been treated with a biliary diversion at age 18. A 1.7 x 1.3 cm mass was detected in the pancreas on ab...
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ژورنال
عنوان ژورنال: Pediatric Gastroenterology, Hepatology & Nutrition
سال: 2019
ISSN: 2234-8646,2234-8840
DOI: 10.5223/pghn.2019.22.2.201