Abstract
We report a rare case of progressive familial intrahepatic cholestasis type 2 from India. The diagnosis was confirmed on the basis of gene mutation analysis. The child had intense pruritus refractory to conventional medical management. As liver biopsy did not reveal any cirrhosis, partial external biliary diversion was considered as an alternative to liver transplant. We performed cholecystoappendicostomy rather than the conventional method of using an ileal loop as a conduit between the gall bladder and abdominal wall. Child recovered completely.
Similar content being viewed by others
References
Jacquemin E. Progressive familial intrahepatic cholestasis. J Gastroenterol Hepatol 1999; 14: 594–599.
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.
Jansen PL, Sturm E. Genetic cholestasis, causes and consequences for hepatobiliary transport. Liver Int 2003; 23: 315–322.
Narkewicz MR, Smith D, Gregory C, Lear JL, Osberg I, Sokol RJ. Effect of ursodeoxycholic acid therapy on hepatic function in children with intrahepatic cholestasic liver disease. J Pediatr Gastroenterol Nutr 1998; 26: 49–55.
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.
Kalichinski PJ, Ismail H, Jankowska I, Kaminski A, Pawlowska J, Drewniak T, et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparision of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 2003; 13: 307–311.
Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988; 95: 130–136.
Hollands CM, Rivera-Pedrogo FJ, Gonzalez-Vallina, Loret-de-Mola O, Nahmad M. Ileal exclusion for Byler’s disease: an alternative surgical approach with promising early results for pruritus. J Pediatr Surg 1998; 33: 220–224.
Rebhandl W, Felberbauer FX, Turnbull J, Paya K, Barcik U, Huber WD, et al. Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1999; 28: 217–219.
Mattie P, von Allman D, Picolo D, Rand E. Relief of intractable pruritis in Alagille syndrome by partial external biliary diversion. J Pediatr Surg 2006; 41: 104–107.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sharma, D., Shah, U.H., Sibal, A. et al. Cholecystoappendicostomy for progressive familial intrahepatic cholestasis. Indian Pediatr 47, 626–628 (2010). https://doi.org/10.1007/s13312-010-0122-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-010-0122-2