1. Successful combined liver/kidney transplantation from a donor with Pompe disease.
- Author
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Halldorson J, Kazi Z, Mekeel K, Kuo A, Hassanein T, Loomba R, Austin S, Valasek MA, Kishnani P, and Hemming AW
- Subjects
- Female, Humans, Male, alpha-Glucosidases metabolism, Glycogen Storage Disease Type II, Kidney Transplantation, Liver Transplantation, Tissue Donors
- Abstract
Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. This case demonstrates co-operative transplant surgery and genetic medicine evaluation and risk estimation for donors with inherited metabolic disorders some of which may be suitable for donation of selected organs for transplantation., (Copyright © 2015 Elsevier Inc. All rights reserved.)
- Published
- 2015
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