scholarly journals Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch

2018 ◽  
Vol 2 (2) ◽  
pp. 152-154
Author(s):  
Robert Holz ◽  
Andreas E. Kremer ◽  
Dieter Lütjohann ◽  
Hermann E. Wasmuth ◽  
Frank Lammert ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Nasobiliary Drainage

NASOBILIARY DRAINAGE INDUCES REMISSION IN BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS

2005 ◽  
Vol 40 (5) ◽  
pp. 628
Author(s):  
JM Stapelbroek ◽  
KJ Van Erpecum ◽  
LWJ Klomp ◽  
MP Schwartz ◽  
AS Knisely ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Nasobiliary Drainage

scholarly journals Description of Two NewABCB11Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family

2011 ◽  
Vol 25 (6) ◽  
pp. 311-314 ◽  
Author(s):  
Yannick Beauséjour ◽  
Fernando Alvarez ◽  
Martin Beaulieu ◽  
Marc Bilodeau
Keyword(s):  
Intrahepatic Cholestasis ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Present Report ◽  
Genetic Diagnosis ◽  
Rare Clinical Entity ◽  
French Canadian ◽  
Genetic Characteristics ◽  
Benign Recurrent Intrahepatic Cholestasis

Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of theABCB11gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.

scholarly journals Nasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy

2016 ◽  
Vol 39 (6) ◽  
pp. 164 ◽  
Author(s):  
Tolga Yakar ◽  
Mehmet Demir ◽  
Huseyin S Gokturk ◽  
Ayse G Unler Kanat ◽  
Alper Parlakgumus ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gamma Glutamyl Transpeptidase ◽  
Duration Of Treatment ◽  
Endoscopic Retrograde ◽  
Safety And Efficacy ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Episode Duration ◽  
Nasobiliary Drainage ◽  
Glutamyl Transpeptidase ◽  
Group Post

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 retrospective study consisting of 33 patients suffering from BRIC. All patients were administrated medical treatment and 16 patients who were refractory to standard medical therapies improved on treatment with temporary endoscopic NBD. Duration of treatment response and associated complications were analyzed. Results: Sixteen patients (43% females) underwent 25 NBD procedures. The median duration of NBD was 17 days. There were significant improvements in total and direct bilirubin and alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase and gamma-glutamyl transpeptidase on the 3rd day of NBD. Longer clinical remission was monitored in the NBD group. Post-endoscopic retrograde cholangiopancreatography pancreatitis was observed in one of 16 cases. Conclusion: NBD effectively eliminates BRIC in all patients and improves biomarkers of cholestasis. It can be suggested that patients with attacks of BRIC can be treated with temporary endoscopic NBD; however, the results of this study should be confirmed by prospective studies in the future.

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

2004 ◽  
Vol 127 (2) ◽  
pp. 379-384 ◽  
Author(s):  
Saskia W.C. van Mil ◽  
Wendy L. van der Woerd ◽  
Gerda van der Brugge ◽  
Ekkehard Sturm ◽  
Peter L.M. Jansen ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis

scholarly journals Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

2019 ◽  
Vol 22 (2) ◽  
pp. 201
Author(s):  
Min Ji Sohn ◽  
Min Hyung Woo ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Gyeong Hoon Kang ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis

scholarly journals Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis

Hepatology ◽  
2005 ◽  
Vol 43 (1) ◽  
pp. 51-53 ◽  
Author(s):  
Janneke M. Stapelbroek ◽  
Karel J. van Erpecum ◽  
Leo W. J. Klomp ◽  
Niels G. Venneman ◽  
Thijs P. Schwartz ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Nasobiliary Drainage
Sign in / Sign up

Export Citation Format

Share Document