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| 1 | Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature显示文摘BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field. | Mariano Piazzolla Nicola Castellaneta Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo | 2020 | World Journal of Hepatology2020，12，2： | 3 |
| 2 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，： | 1 |
| 3 | Arterial embolization is a rapid and effcetive technique for controlling pelvic fracture hemorrhage显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，3： | 1 |
| 4 | Arterial Embolization Is a Rapid and Effective Technique for Controlling Pelvic Fracture Hemorrhage显示文摘 | Stefano F. Agolini Kamalesh Shah James Jaffe James Newcomb Michael Rhodes James F. Reed | 1997 | The Journal of Trauma: Injury, Infection, and Cri1997，，3： | 1 |
| 5 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage 显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trama1997，43，： | 1 |
| 6 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage显示文摘 | AGOLINI S F SHAH K JAFFE J et a1 | 1997 | J Trauma1997，43，： | 1 |
| 7 | Strategies for prevention and control of healthcare related infections by Acinetobacter baumannii显示文摘 | Puro V Pittalis S Agolini G | 2011 | Ann Ig2011，23，6： | 1 |
| 8 | Spontaneous dislocationinto the vitreous of a poly ( methyl methacrylate) disc lens 9years after surgery 显示文摘 | Tognetto D Agolini G Ravalico G | 1999 | J Cataract Refract Surg1999，25，2： | 1 |
| 9 | Arterial emlolisation is a rapid and effective technique for controlling pelvic fracture haemorrhage显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，： | 1 |
| 10 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage 显示文摘 | Agolini SF Shah K Jaffe J | 1997 | Trauma1997，43，3： | 1 |
| 11 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage 显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，3： | 1 |
| 12 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage 显示文摘 | Agolini SF Shah K Jeffe J | 1997 | J Trauma1997，43，3： | 1 |
| 13 | Iris alteration using mechanical iris retractors 显示文摘 | Tognetto D Agolini G | 2001 | J Cataract Refract Surg2001，27，10： | 1 |
| 14 | Arterial Embolization is a Rapid and Effective Technique for Controlling Pelvis Fracture Hemorrhage显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，3： | 1 |
| 15 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，3： | 1 |
| 16 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage显示文摘 | Agolini SF Shah K Jaffe J | | 0，，： | 1 |
| 17 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hem orange显示文摘 | Shah K Jaffe J | 1997 | J Trauma1997，43，3： | 1 |
| 18 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage显示文摘 | Agolini S F Shah K Jaffe J | | 0，，03： | 1 |
| 19 | Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage显示文摘 | Agolini SF Shah K Jaffe J | 1997 | J Trauma1997，43，： | 1 |
| 20 | Arterial embolization is a rapid and effectivetechnique for controlling pelvic fracture hemorrhage显示文摘 | Agolini SF shah K Jaffe J | 1997 | J Tranma1997，43，： | 1 |
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