title: Successful combined liver/kidney transplantation from a donor with Pompe disease.
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.
authors.affiliation: Department of Surgery, Division of Transplantation, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8401, USA. Electronic address: jhalldorson@ucsd.edu.
authors.forename: J
authors.initials: J
authors.lastname: Halldorson
authors.affiliation: Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, GSRBI, Box 103856 DUMC, Durham, NC 27710, USA.
authors.forename: Z
authors.initials: Z
authors.lastname: Kazi
authors.affiliation: Department of Surgery, Division of Transplantation, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8401, USA.
authors.forename: K
authors.initials: K
authors.lastname: Mekeel
authors.affiliation: Department of Medicine, Division of Gastroenterology, University of California Medical Center, 200West Arbor Drive, San Diego, CA 92103-8401, USA.
authors.forename: A
authors.initials: A
authors.lastname: Kuo
authors.affiliation: Southern California GI and Liver Centers, 230 Prospect Place, Suite 220 Coronado, CA 92118, USA.
authors.forename: T
authors.initials: T
authors.lastname: Hassanein
authors.affiliation: Department of Medicine, Division of Gastroenterology, University of California Medical Center, 200West Arbor Drive, San Diego, CA 92103-8401, USA.
authors.forename: R
authors.initials: R
authors.lastname: Loomba
authors.affiliation: Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, GSRBI, Box 103856 DUMC, Durham, NC 27710, USA.
authors.forename: S
authors.initials: S
authors.lastname: Austin
authors.affiliation: Department of Pathology, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8720, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Valasek
authors.affiliation: Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, GSRBI, Box 103856 DUMC, Durham, NC 27710, USA.
authors.forename: P
authors.initials: P
authors.lastname: Kishnani
authors.affiliation: Department of Surgery, Division of Transplantation, University of California Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8401, USA.
authors.forename: A W
authors.initials: AW
authors.lastname: Hemming
mesh_terms: D005260:Female; D006009:Glycogen Storage Disease Type II; D006801:Humans; D016030:Kidney Transplantation; D016031:Liver Transplantation; D008297:Male; D014019:Tissue Donors; D000520:alpha-Glucosidases / Q000378:metabolism
chemical_list: D000520:alpha-Glucosidases
keywords: Glycogen storage disease; Kidney transplantation; Liver transplantation; Pompe disease; Transplant donor