Long-term results of living donor liver transplantation for glycogen storage disorders in children

Abstract

Liver transplantation (LT) may be indicated in glycogen storage disorders (GSD) when medical treatment fails to control the metabolic problems or when hepatic adenomas develop. We present our institutional experience with living donor LT (LDLT) for children with GSD. A total of 244 patients underwent primary LDLT at our institution from June 1994 to December 2005. A total of 12 (5%) children (8 female and 4 male) were afflicted with GSD and were not responsive to medical treatment. Nine patients had GSD type I and 3 had GSD type III. The median age at the time of transplantation was 7.27 yr (range, 2.4-15.7). All patients presented with metabolic abnormalities, including hypoglycemia, and lactic acidosis. In addition, 4 patients presented with growth retardation. A total of 11 patients received left lobe grafts and 1 received a right lobe graft. The mean graft-to-recipient weight ratio was 1.25 (range, 0.89-1.61). Two patients had hepatic vein stenoses that were treated by balloon dilatation; 1 patient had bile leak, which settled spontaneously. The overall surgical morbidity rate was 25%. Three patients had hepatic adenomas in the explanted liver. There was a single mortality at 2 months posttransplantation due to acute pancreatitis and sepsis. The mean follow up was 47.45 months. The metabolic abnormalities were corrected and renal function remained normal. In patients with growth retardation, catch-up growth was achieved posttransplantation. In conclusion, LDLT is a viable option to restore normal metabolic balance in patients with GSD when medical treatment fails. Long-term follow-up after LT for GSD shows excellent graft and patient survival. Liver Transpl 13:848-852, 2007. © 2007 AASLD.Received September 15, 2006; accepted February 6, 2007. Carbohydrate metabolism in the liver is responsible for plasma glucose homeostasis. Glycogen storage diseases (GSD) are metabolic disorders that result in abnormal storage amounts and/or forms of glycogen in tissues. 1 GSD type I (von Gierke disease) is caused by deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa with glycogen overloading in these organs. Classically, patients with GSD type I either present in the neonatal period with hypoglycemia and lactic acidosis, or present at 3-4 months of age with hepatomegaly and/or hypoglycemic seizures.2 The other manifestations include systemic acidosis, hyperlipidemia, hyperuricemia, and growth retardation. Without effective treatment, long-term complications occur including gout, osteoporoAbbreviations: GSD, glycogen storage disorders; LT, liver transplantation; LDLT, living donor LT.

Glycogen Storage Disease Type III diagnosis and management guidelines

“…LT does not correct the skeletal or cardiac manifestations of GSD III. 96,97 Few individuals have undergone LT for GSD III. 96,97 As individuals with GSD III continue to have a better quality of life and live longer, it is possible that the incidence both of ESLD and HCC will also increase, thereby resulting in greater demands on liver transplant services.…”

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

“…107 on the other hand, in children with GSD-I, living-donor or reduced-size liver transplantation 108,109 has corrected metabolic abnormalities in all nine cases of GSD-Ia and four cases of GSD-Ib documented and improved neutropenia and decreased infectious episodes in children with GSD-Ib. 109 In a 21-year-old patient with GSD-I and multiple hepato-cellular adenomas, reduced-size liver transplantation was also successful, 110 which suggests that living-donor liver transplantation is a viable option to restore normal metabolic balance in some patients with GSD-I.…”

Reappraisal of the Role of Portacaval Shunting in the Growth of Patients With Glycogen Storage Disease Type I in the Era of Liver Transplantation

“…Seventeen patients underwent PCS at a median age of 10 (range 4-12) years, and 13 patients underwent LT at a median age of 14.0 (range, [9][10][11][12][13][14][15][16][17][18][19][20][21][22] years. In the LT group, 6 patients with no previous PCS underwent LT at a median age of 13.0 (range, [9][10][11][12][13][14][15][16][17][18][19][20][21][22] years, and 7 underwent LT at a median age of 14.0 (range, 13-21) years with a median interval of 70 (range, 38-128) months after PCS. This group included 2 cases of deceased donor LT and 11 cases of living donor LT.…”