Successful combined liver/kidney transplantation from a donor with Pompe disease

J Halldorson; Z Kazi; K Mekeel; A Kuo; T Hassanein; R Loomba; S Austin; M A Valasek; P Kishnani; A W Hemming

doi:10.1016/j.ymgme.2015.05.007

Successful combined liver/kidney transplantation from a donor with Pompe disease

Mol Genet Metab. 2015 Aug;115(4):141-4. doi: 10.1016/j.ymgme.2015.05.007. Epub 2015 May 13.

Authors

J Halldorson¹, Z Kazi², K Mekeel³, A Kuo⁴, T Hassanein⁵, R Loomba⁴, S Austin², M A Valasek⁶, P Kishnani², A W Hemming³

Affiliations

¹ Department of Surgery, Division of Transplantation, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8401, USA. Electronic address: [email protected].
² Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, GSRBI, Box 103856 DUMC, Durham, NC 27710, USA.
³ Department of Surgery, Division of Transplantation, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8401, USA.
⁴ Department of Medicine, Division of Gastroenterology, University of California Medical Center, 200West Arbor Drive, San Diego, CA 92103-8401, USA.
⁵ Southern California GI and Liver Centers, 230 Prospect Place, Suite 220 Coronado, CA 92118, USA.
⁶ Department of Pathology, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8720, USA.

PMID: 26031770
DOI: 10.1016/j.ymgme.2015.05.007

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.

Keywords: Glycogen storage disease; Kidney transplantation; Liver transplantation; Pompe disease; Transplant donor.

Publication types

Case Reports
Review

MeSH terms

Female
Glycogen Storage Disease Type II*
Humans
Kidney Transplantation*
Liver Transplantation*
Male
Tissue Donors*
alpha-Glucosidases / metabolism

Substances

alpha-Glucosidases