Preemptive liver-kidney transplantation in von Gierke disease: a case report.

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.

Quality-of-life assessment before and after liver transplantation.

BACKGROUND: Quality-of-life (QoL) assessment includes health status, disability, psychological wellness, and social performance. We sought to evaluate the effect of liver transplantation (OLT) on the QoL of patients awaiting the procedure and its variations up to 8 years afterwards. METHODS: LEIPAD-perceived QoL and BSI-psychological distress tests were used. Patients were divided in four groups (waiting list patients, 1 to 2 years after LT, 3 to 4 years after LT, 5 to 8 years after LT). Patients were also evaluated for type and severity of liver disease. RESULTS: We evaluated 126 patients, 71% male, 29% female, median age 60.7 years (range 40 to 76 years), median follow-up 4 years (range 1 to 8). The patients on the waiting list scored worse both in global stress index (GSI) and total LEIPAD scores than transplanted patients. Upon univariate linear regression analysis, the only dimension associated with time groups was LEIPAD--physical functioning, showing a progressive improvement of perceived physical status with time from transplant. Severity of liver disease showed a protective effect, probably reflecting a better control of stressful events from patients transplanted at advanced stages of liver disease. Protective effects were found for male sex, retired, cohabitant patients, and the degree of education. Housewife and widow patients showed negative associations with BSI and LEIPAD dimensions. No independent predictors of QoL were found in this study. CONCLUSIONS: OLT improves most, but not all, QoL and psychological distress domains.

Successful minimally invasive management of late portal vein thrombosis after splenectomy due to splenic artery steal syndrome following liver transplantation: a case report.

Portal vein thrombosis (PVT) after liver transplantation (OLT), which occurs in 1% to 2.7% of cases, can compromise patient and graft survival. Percutaneous transhepatic portal vein angioplasty offers an option to treat PVT, diminishing surgically related morbidity and the need for retransplantation. We describe a case of late PVT after OLT, which was successfully treated by a minimally invasive percutaneous transhepatic approach using both mechanical fragmentation and pharmacologic lysis of the thrombus followed by anticoagulation. The patient has had a good clinical course with normal graft function and patent portal blood flow at 6-month follow-up. This case report confirms the possibility of successful recanalization of the portal vein in a patient with late PVT after liver transplantation. Sustained anticoagulation/antiaggregation therapy for at least 6 months after the procedure is advisable.