TY - JOUR
T1 - Combined liver-kidney transplantation in glycogen storage disease 1a
T2 - A case beyond the guidelines
AU - Belingheri, Mirco
AU - Ghio, Luciana
AU - Sala, Ambra
AU - Menni, Francesca
AU - Trespidi, Laura
AU - Ferraresso, Mariano
AU - Berardinelli, Luisa
AU - Rossi, Giorgio
AU - Edefonti, Alberto
AU - Parini, Rossella
PY - 2007/5
Y1 - 2007/5
N2 - 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.
AB - 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.
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U2 - 10.1002/lt.21147
DO - 10.1002/lt.21147
M3 - Article
C2 - 17457869
AN - SCOPUS:34249003021
VL - 13
SP - 762
EP - 764
JO - Liver Transplantation
JF - Liver Transplantation
SN - 1527-6465
IS - 5
ER -