Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis
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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 کامل"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...
متن کاملNasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy.
PURPOSE Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. The aim of this study was to evaluate the safety and efficacy of nasobiliary drainage (NBD) in patients with BRIC refractory to medical therapy and to determine whether the use of NBD prolongs the episode duration. METHODS This was a multicenter retros...
متن کاملEndoscopic nasobiliary drainage improves jaundice attack symptoms in benign recurrent intrahepatic cholestasis: A case report
A 66-year-old male with unbearable pruritus and jaundice was admitted for detailed examination. Blood tests on admission showed increased bilirubin with a dominant direct fraction. Ultrasonography and computed tomography performed subsequent to admission showed no narrowing or distension of the bile ducts. As the jaundice symptoms were not improved by the oral administration of ursodeoxycholic ...
متن کاملHereditary recurrent intrahepatic cholestasis from birth.
Obstructive jaundice in the first months of life is a fairly frequent phenomenon. Approximately twothirds of these infants have atresia of the hepatic ducts, and about two-thirds of the remaining can be classified as 'neonatal hepatitis', 'giant cell hepatitis', or 'thick bile syndrome' (Craig and Landing, 1952; de Toni and Romano, 1962; Gellis, 1961). 'Thick bile syndrome' is defined as 'neona...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 1994
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng1294-380