Partial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1.

Division of Pediatric Surgery, Department of Surgery, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Pediatric Surgery International (Impact Factor: 1.06). 01/2012; 28(1):51-4. DOI: 10.1007/s00383-011-3018-x
Source: PubMed

ABSTRACT We herein report a case of progressive familial intrahepatic cholestasis with partial internal biliary diversion (PIBD). Although by using PIBD an external stoma can be avoided, exposure of the ileocecal junction to bile reflux as well as the effects of the direct bile flow on the colonic mucosa require further investigation.

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    ABSTRACT: Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood. These are autosomal recessive in inheritance. The estimated incidence is about 1 per 50,000 to 1 per 100,000 births, although exact prevalence is not known. These diseases affect both the genders equally and have been reported from all geographical areas. Based on clinical presentation, laboratory findings, liver histology and genetic defect, these are broadly divided into three types—PFIC type 1, PFIC type 2 and PFIC type 3. The defect is in ATP8B1 gene encoding the FIC1 protein, ABCB 11 gene encoding BSEP protein and ABCB4 gene encoding MDR3 protein in PFIC1, 2 and 3 respectively. The basic defect is impaired bile salt secretion in PFIC1/2 whereas in PFIC3, it is reduced biliary phospholipid secretion. The main clinical presentation is in the form of cholestatic jaundice and pruritus. Serum gamma glutamyl transpeptidase (GGT) is normal in patients with PFIC1/2 while it is raised in patients with PFIC3. Treatment includes nutritional support (adequate calories, supplementation of fat soluble vitamins and medium chain triglycerides) and use of medications to relieve pruritus as initial therapy followed by biliary diversion procedures in selected patients. Ultimately liver transplantation is needed in most patients as they develop progressive liver fibrosis, cirrhosis and end stage liver disease. Due to the high risk of developing liver tumors in PFIC2 patients, monitoring is recommended from infancy. Mutation targeted pharmacotherapy, gene therapy and hepatocyte transplantation are being explored as future therapeutic options.
    01/2013; 4(1). DOI:10.1016/j.jceh.2013.10.005
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    ABSTRACT: Background We speculated that Roux-en-Y cholecysto-colonic diversion was as effective for treating children with progressive familial intrahepatic cholestasis (PFIC) as partial biliary diversion. The feasibility of the novel approach in bypassing bile was investigated in rabbits. Methods 24 rabbits were randomly divided into three groups: sham operated group (Group1), 30 cm limb group (Group 2), and 10 cm limb group (Group 3). Group 2 or 3 underwent a Roux-en-Y cholecystocolonic anastomose with a 30-or 10-cm-long Roux limb. 99mTcEHIDA dynamic biligraphy was used to detect alterations of bile flow among the three groups at 1 year postoperatively. TBA levels and histological changes were also evaluated. Results All animals survived and developed normally without clinical symptoms during 1 year follow-up. Bile was diverted into colon directly after cholecystocolonic anastomosis. In group 3, E20 and E35 values were (77.27 ± 6.15) % and (90.39 ± 1.49) % respectively. Gallbladder emptying was accelerated in 10 cm short limb group than in 30 cm long limb group. The ratio of bile shunt was (0.547 ± 0.182), which was also more than that in group 2 (p < 0.05). The activity-time curve for the gallbladder area in group 2 looks like a wave. A significant reduction in TBA level was observed in group 2 and 3 (p < 0.05). Conclusions Roux-en-Y cholecystocolonic bypass was safe, feasible. Its effectiveness is related to the length of Roux loop. Cholecystocolonic bypass led to a significant loss of bile acids in healthy rabbits and might be considered for bile diversion in pediatric patients with selected cholestatic diseases.
    Journal of Pediatric Surgery 07/2014; 49(7). DOI:10.1016/j.jpedsurg.2014.02.041 · 1.31 Impact Factor
  • 06/2014; 4(2). DOI:10.1016/j.jceh.2014.05.010