Abstract
A 2½-year-old boy presented with pruritus and jaundice of 2 weeks duration. On investigation, serum total bilirubin was 23.4 mg/dL and gamma glutamyl transpeptidase was normal. Liver biopsy was consistent with progressive familial intrahepatic cholestasis (PFIC). A partial external biliary diversion (PEBD) was done. Pruritus disappeared, growth improved and serum total bilirubin became normal, 2 months after surgery. This is the first report from India, of PFIC treated with PEBD and suggests that PEBD should be considered in patients with PFIC even if bridging fibrosis is present.
Similar content being viewed by others
References
Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:134–141.
Englert C, Grabhorn E, Richter A, Rogiers X, Burdelski M, Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation 2007;84:1361–1363.
Wang L, Soroka CJ, Boyer JL. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002;110:965–972.
Strautnieks SS, Byrne JA, Pawlikowska L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008;134:1203–1214.
de Vree JM, Jacquemin E, Sturm E, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 1998;95:282–287.
Jacquemin E, de Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448–58.
Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:128–33.
Bustorff-Silva J, Sbraggia NL, Olimpio H, et al. Partial internal biliary diversion through a cholecystojejunocolonic anastomosis-a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg 2007;42:1337–1340.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Koshy, A., Ramesh, H., Mahadevan, P. et al. Progressive familial intrahepatic cholestasis: A case with improvement in liver tests and growth following partial external biliary diversion. Indian J Gastroenterol 28, 107–108 (2009). https://doi.org/10.1007/s12664-009-0038-8
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12664-009-0038-8