Serum bile acid control in long-term maralixibat-treated patients is associated with native liver survival in children with progressive familial intrahepatic cholestasis due to bile salt export pump deficiency

2020 ◽  
Vol 73 ◽  
pp. S120
Author(s):  
Richard Thompson ◽  
Deirdre Kelly ◽  
Alexander Miethke ◽  
Sanjay Rajwal ◽  
Nisreen Soufi ◽  
...  
Keyword(s):  
Bile Acid ◽  
Bile Salt ◽  
Intrahepatic Cholestasis ◽  
Serum Bile Acid ◽  
Bile Salt Export Pump ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Acid Control ◽  
Native Liver ◽  
Native Liver Survival

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

1999 ◽  
Vol 117 (6) ◽  
pp. 1370-1379 ◽  
Author(s):  
Peter L.M. Jansen ◽  
Sandra S. Strautnieks ◽  
Emmanuel Jacquemin ◽  
Michelle Hadchouel ◽  
Etienne M. Sokal ◽  
...  
Keyword(s):  
Bile Salt ◽  
Intrahepatic Cholestasis ◽  
Bile Salt Export Pump ◽  
Progressive Familial Intrahepatic Cholestasis

scholarly journals A child with debilitating pruritus

2016 ◽  
Vol 6 (4) ◽  
Author(s):  
Nikhil Sonthalia ◽  
Sami S. Jain ◽  
Vinay B. Pawar ◽  
Vinay G. Zanwar ◽  
Ravindra G. Surude ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Alkaline Phosphatase ◽  
Bile Acid ◽  
Intrahepatic Cholestasis ◽  
Serum Alkaline Phosphatase ◽  
Gamma Glutamyl Transferase ◽  
Type I ◽  
Serum Bile Acid ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Glutamyl Transferase

We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of progressive familial intrahepatic cholestasis type I. Medical therapy with ursodeoxycholic acid, cholestyramine, rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. To our knowledge this is only the sixth case of progressive familial intrahepatic cholestasis type I reported from India. Herein we discuss the diagnostic and therapeutic hurdles that one encounters in managing progressive familial intrahepatic cholestasis and also review the literature regarding this rare disorder.

scholarly journals Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II

Hepatology ◽  
2008 ◽  
Vol 48 (5) ◽  
pp. 1558-1569 ◽  
Author(s):  
Lin Wang ◽  
Huiping Dong ◽  
Carol J. Soroka ◽  
Ning Wei ◽  
James L. Boyer ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Bile Salt ◽  
Intrahepatic Cholestasis ◽  
Type Ii ◽  
Bile Salt Export Pump ◽  
Progressive Familial Intrahepatic Cholestasis

scholarly journals Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis

2020 ◽  
Vol 13 (6) ◽  
pp. e234185
Author(s):  
Christoph Slavetinsky ◽  
Ekkehard Sturm
Keyword(s):  
Bile Acid ◽  
Bile Acids ◽  
Intrahepatic Cholestasis ◽  
Cholestatic Liver Disease ◽  
Serum Bile Acid ◽  
Open Label ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Serum Bile Acids ◽  
Biliary Diversion

Untreated progressive familial intrahepatic cholestasis (PFIC) type 2, or bile salt exporter protein deficiency, frequently leads to severe pruritus, impaired growth and progressive liver fibrosis with risk of organ failure. We describe a 15-month-old male patient with severe pruritus diagnosed with PFIC type 2 enrolled in an open-label phase 2 study who received 4 weeks of treatment with odevixibat, an ileal bile acid transporter inhibitor under development for cholestatic liver disease treatment. The patient experienced reductions in serum bile acids and improvement in itching and sleep scores, and odevixibat was well tolerated. After the odevixibat study, symptoms returned and the patient underwent partial external biliary diversion (PEBD). Odevixibat treatment and PEBD produced similar normalisation of serum bile acid levels and improvements in pruritus and sleep disruptions. Thus, odevixibat appeared to be as effective as invasive PEBD in treating serum bile acids and cholestatic pruritus in this patient.

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