"an iranian girl with benign recurrent intrahepatic cholestasis "

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...

Hereditary 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...

Endoscopic 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 ...

Nasobiliary 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...

Recurrent intrahepatic cholestasis of pregnancy. A case report.

Intrahepatic cholestasis of pregnancy (ICP) represents a rare but severe pathology with serious consequences on the outcome of pregnancy. We present the cases of two sisters that came to our clinic with ICP in successive pregnancies. The fetus from a pregnancy with cholestasis can be affected by preterm birth, respiratory distress syndrome, intrauterine death in the third trimester and a possib...

Progressive Familial Intrahepatic Cholestasis