Combined liver-kidney transplantation in glycogen storage disease 1a: A case beyond the guidelines

Mirco Belingheri, Luciana Ghio, Ambra Sala, Francesca Menni, Laura Trespidi, Mariano Ferraresso, Luisa Berardinelli, Giorgio Rossi, Alberto Edefonti, Rossella Parini

Research output: Contribution to journalArticlepeer-review

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 la should be considered for LKT even in the a sence of hepatic lesions with the aim of improving their quality of life.

Original languageEnglish
Pages (from-to)762-764
Number of pages3
JournalLiver Transplantation
Volume13
Issue number5
DOIs
Publication statusPublished - May 2007

ASJC Scopus subject areas

  • Surgery
  • Transplantation

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