Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up.

Abstract

Hepatocyte transplantation is an investigational alternative to orthotopic liver transplantation to treat liver based inborn errors of metabolism. We report successful hepatocyte transplantation in a 4-year-old girl with infantile Refsum disease. Hepatocytes were isolated from the left liver segment of two male donors using a classic two-step perfusion method. Fresh cells were transplanted first and then cryopreserved cells, for a total of 2 billion cells. Total bile acids and abnormal dihydroxycoprostanoïc acid markedly decreased in the patient's serum, indicating resolution of cholestasis and re-population of liver cells. Pipecholic acid decreased by 40% and c26:c22 fatty acid ratio by 36% after 18 months. Donor chromosomes sequences were detected on biopsy posttransplant, indicating engraftment. Hepatocyte transplantation is a safe and promising technique in the treatment of rare inborn errors of metabolism. Future improvements of cell viability and prevention of apoptosis may increase engraftment and subsequent re-population.

• Authors: Etienne M Sokal, Françoise Smets, Annick Bourgois, Lionel Van Maldergem, Jean-Paul Buts, Raymond Reding, Jean Bernard Otte, Veerle Evrard, Dominique Latinne, Marie Françoise Vincent, Anne Moser, Humberto E Soriano
• Journal: Transplantation (Transplantation) Vol. 76 Issue 4 Pg. 735-8 (Aug 27 2003) ISSN: 0041-1337 [Print] United States
• PMID: 12973120 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Bile Acids and Salts
• Fatty Acids
• Oxygen

Topics

• Bile Acids and Salts (metabolism)
• Child, Preschool
• Fatty Acids (metabolism)
• Female
• Follow-Up Studies
• Hepatocytes (transplantation)
• Humans
• Oxygen (blood)
• Peroxisomal Disorders (metabolism, therapy)