title: Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines.
abstract: Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder due to hepatic glucose-6-phosphatase deficiency. Although great progress has been made in managing affected patients, severe hypoglycemia, lactic acidosis, hyperlipidemia, hepatic cytolysis, and impaired kidney function are frequent. Liver transplantation is the only radical treatment, for which the main indications are hepatic adenomatosis, hepatocellular carcinoma, or severe hepatic dysfunction. We present the case of a patient with end-stage renal disease without focal hepatic lesions and with moderate hepatic metabolic control, and we explain how combined liver-kidney transplantation (LKT) made it possible to correct the metabolic defects responsible for the impaired glucose homeostasis, liberalize the diet, and give birth to a healthy child after an uneventful pregnancy. Patients with end-stage renal disease that resulted from GSD Ia should be considered for LKT even in the absence of hepatic lesions with the aim of improving their quality of life.
authors: Pediatric Nephrology Unit, Maggiore Policlinico Hospital, Mangiagalli and Regina Elena Foundation, IRCCS, Milan, Italy.
authors: Mirco
authors: M
authors: Belingheri
authors: Luciana
authors: L
authors: Ghio
authors: Ambra
authors: A
authors: Sala
authors: Francesca
authors: F
authors: Menni
authors: Laura
authors: L
authors: Trespidi
authors: Mariano
authors: M
authors: Ferraresso
authors: Luisa
authors: L
authors: Berardinelli
authors: Giorgio
authors: G
authors: Rossi
authors: Alberto
authors: A
authors: Edefonti
authors: Rossella
authors: R
authors: Parini
mesh_terms: D000328:Adult; D005260:Female; D006008:Glycogen Storage Disease / Q000145:classification / Q000150:complications* / Q000473:pathology / Q000601:surgery*; D006801:Humans; D016030:Kidney Transplantation; D050498:Live Birth; D008099:Liver / Q000473:pathology; D016031:Liver Transplantation; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D051437:Renal Insufficiency / Q000209:etiology* / Q000601:surgery*; D016896:Treatment Outcome