title: Preemptive liver-kidney transplantation in von Gierke disease: a case report.
abstract: Type 1a glycogen storage disease (GSD 1a), or von Gierke disease, is a rare, autosomal-recessive disease caused by a deficiency of glucose-6-phosphatase, which leads to glycogen accumulation in the liver, kidney, and intestinal mucosa. Clinical manifestations include hypoglycemia, growth retardation, hepatomegaly, lactic acidemia, hyperlipidemia, and hyperuricemia. Long-term complications include renal disease, gout, osteoporosis, pulmonary hypertension, short stature, and hepatocellular adenomas, which may undergo malignant transformation. Herein we have described the management and the clinical course of a GSD1a patient who underwent simultaneous preemptive liver- kidney transplantation (SPLKT), which solved the liver and renal disease. We confirmed the rapid normalization of glucose metabolism, and correction of hyperlipemia after liver transplantation. In our opinion uremic patients with GSD 1a with or without adenomas must be considered for SPLKT. To our knowledge this is the fifth case of SPLKT and the first preemptive one to be described in the literature.
authors.affiliation: Department of Nephrology, Azienda Ospedaliero Universitaria S Maria della Misericordia, Udine, Italy. marega.alessandra@aoud.sanita.fvg.it
authors.forename: A
authors.initials: A
authors.lastname: Marega
authors.forename: C
authors.initials: C
authors.lastname: Fregonese
authors.forename: P
authors.initials: P
authors.lastname: Tulissi
authors.forename: C
authors.initials: C
authors.lastname: Vallone
authors.forename: M
authors.initials: M
authors.lastname: Gropuzzo
authors.forename: P L
authors.initials: PL
authors.lastname: Toniutto
authors.forename: U
authors.initials: U
authors.lastname: Baccarani
authors.forename: F
authors.initials: F
authors.lastname: Bresadola
authors.forename: F
authors.initials: F
authors.lastname: Toso
authors.forename: D
authors.initials: D
authors.lastname: Montanaro
mesh_terms: D018248:Adenoma, Liver Cell / Q000209:etiology / Q000601:surgery*; D000328:Adult; D018450:Disease Progression; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology / Q000601:surgery*; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000601:surgery*; D006801:Humans; D016030:Kidney Transplantation; D008113:Liver Neoplasms / Q000209:etiology / Q000601:surgery*; D016031:Liver Transplantation; D016896:Treatment Outcome