Patients with glycogen storage diseases undergoing anesthesia: a case series.

BACKGROUND: Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue. The objective of this study was to describe the perioperative course of a cohort of patients with glycogen storage diseases. METHODS: This is a retrospective review of patients with glycogen storage diseases undergoing anesthetic care at our institution from January 1, 1990, through June 30, 2015 to assess perioperative management and outcomes. RESULTS: We identified 30 patients with a glycogen storage disease who underwent 41 procedures under anesthesia management. Intraoperative lactic acidosis developed during 4 major surgeries (3 liver transplants, 1 myectomy), and in all cases resolved within 24 postoperative hours. Lactated Ringer solution was used frequently. Preoperative and intraoperative hypoglycemia was noted in some patients with glycogen storage disease type I, all of which responded to administration of dextrose-containing solutions. No serious postoperative complications occurred. CONCLUSIONS: Patients with glycogen storage disease, despite substantial comorbid conditions, tolerates the anesthetic management without major complications. Several patients who experienced self-limited metabolic acidosis were undergoing major surgical procedures, during which acidosis could be anticipated. Close monitoring and management of blood glucose levels of patients with glycogen storage disease type I is prudent.

A case of perioperative glucose control by using an artificial pancreas in a patient with glycogen storage disease.

A 57-year-old woman was diagnosed with type I glycogen storage disease in her twenties. She had undergone hepatectomy under general anesthesia with epidural anesthesia. Fifty minutes after the induction of anesthesia, a 20-gauge venous catheter was inserted in the patient's right hand, and an artificial pancreas (STG-55, Nikkiso Co., Tokyo, Japan) was connected for continuous glucose monitoring and automatic glucose control. Insulin was infused when the blood glucose level reached 120 mg/dL or higher, and glucose was infused when the level fell to 100 mg/dL or lower. After the Pringle maneuver, the blood glucose level increased, and insulin was administered automatically via an artificial pancreas. Hypoglycemia did not occur during the operation. After total parenteral nutrition was started in the intensive care unit (ICU), the blood glucose level increased, and the artificial pancreas controlled the blood glucose level through automatic insulin administration. Thirty-four hours after admission to the ICU, the artificial pancreas was removed because the blood sampling failed. After the removal of the artificial pancreas, blood glucose level was measured every 2 h until extubation. During the ICU stay, hypoglycemia never occurred, with the average blood glucose level being 144 mg/dL. In conclusion, the use of an artificial pancreas for perioperative blood glucose management in a patient with glycogen storage disease had the beneficial effect of enabling the management of blood glucose levels without hypoglycemia.

Is single-port laparoscopy feasible after liver transplant?

The role of laparoscopy following liver transplant in children is debated. Herein, we report the first two cases of SIPES post-liver transplant. In both patients, SIPES access was carried out using Olympus TriPort. Patient 1 was an 11 yr old born with biliary atresia, who had four previous major laparotomies: Kasai portoenterostomy, followed by liver transplant and two laparotomies for lymph node biopsies for PTLD. The child was referred for suspected PTLD relapse due to enlarged nodes on CT scan. At SIPES, following adequate adhesiolysis, the lymph node biopsy was achieved successfully. Patient 2 was a five yr old with bilateral intra-abdominal testes who had undergone liver transplant aged two yr. He underwent a left one-stage orchidopexy and right first-stage Fowler-Stephen procedure at five yr of life, followed by a second stage Fowler-Stephen surgery on the right side, nine months later. All procedures were successfully performed by SIPES, and both patients were discharged home on first post-operative day. We conclude that SIPES could be safely carried out in patients who have had liver transplant. In case of diffuse intraperitoneal adhesions, SIPES is beneficial to create space by blunt and sharp dissection and decreases post-operative stay.

Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature.

BACKGROUND: The clinical characteristics and outcomes of patients with glycogen storage disease (GSD) who undergo liver transplantation (LT) have not been well defined. In this study, our objective was to determine the outcome of LT in patients with GSD and compare it with a comparable group of patients without GSD (matched controls). METHODS: UNOS data from 1986 to 2007 were used for this study. For each GSD patient (n = 95; men 62%) who was transplanted, three patients (n = 285, men 60%) without GSD (case controls) matched for age ± five yr, year of transplantation and donor risk index (DRI) ± 0.2 were identified from the UNOS database in a random manner. Unadjusted patient survival was determined by Kaplan-Meier survival analysis and significance determined by log-rank test. RESULTS: The mean age of the group was 17.9 yr. GSD patients had lower BMI (22 vs. 24, p = 0.002), lower serum bilirubin (2.7 vs. 13.5 mg/dL, p < 0.0001), higher serum albumin (3.7 vs. 3.1 g/dL, p < 0.0001), and higher wait-list time (239 vs. 74 d, p < 0.0001) compared to case controls. Recipient age and DRI were similar between the groups. Tumors were more common in GSD group (13.7% vs. 5%). Patient survival was significantly better (p = 0.024) in GSD group at one, five, and 10 yr (82%, 76%, and 64%) than non-GSD (73%, 65%, and 59%) group. CONCLUSIONS: In this matched-control study, patients who underwent LT for GSD had a better long-term survival than a comparable group of patients without GSD.

Hepatic Resection and Transplant in Glycogen Storage Diseases.

Patients with glycogen storage diseases pose unique management challenges to clinicians.These challenges are exacerbated wheneverthey undergo surgery as the basic anomaly in their glycogen storage pathways make them susceptible to organic acidosis, which may in turn complicate their preoperative, intraoperative, and postoperative course. Because of the rarity of these diseases, clinicians may not be aware of the specific management concerns. In the case reported here, a 37-year-old patient with glycogen storage disease type 1 underwentleft hepatectomy for hepatic adenomatosis, which was complicated by intraoperative severe lactic acidosis that was successfully treated. After successful hepatectomy, the patient underwent liver transplant without major lactic acidosis or hemodynamic instability. Early recognition and aggressive management of blood sugar and lactic acidosis in patients with glycogen storage diseases can allow for successful outcomes even when complex surgical procedures are required.

Liver transplantation in glycogen storage disease: a single-center experience.

BACKGROUND: Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. Thus, liver transplantation (LT) has been proposed as a final therapy for these types of GSD. LT corrects the primary hepatic enzyme defect; however, the long-term outcomes of LT in these patients have not been extensively evaluated so far. There are few reports in the English literature about the outcome of GSD patients after LT. There has been no report from Iran. The present retrospective study aimed to evaluate the long-term outcomes of eight patients with GSD types I, III, and IV who underwent LT in the affiliated hospitals of Shiraz University of Medical Sciences, from March 2013 to June 2021. During this period, there were no patients with GSD VI and IX identified in this center. RESULTS: The median time of diagnosis of the GSDs and at transplant was 1 year and 11 years, respectively. All eight transplanted patients were alive at the time of follow-up in this study. None of them required a re-transplant. All of the patients showed normalized liver enzymes after LT with no sign of hypoglycemia. CONCLUSIONS: LT is an achievable treatment for end-stage hepatic involvement of GSDs with a cure for metabolic deficiency. Our experience in these eight patients shows a favorable outcome with no mortality and no major complication.

Liver transplantation for inherited metabolic disorders of the liver.

PURPOSE OF REVIEW: Liver transplantation is curative, life saving or both for a range of inherited diseases affecting the liver. Indications, timing and outcome of transplantation for these diseases are the focus of this review. RECENT FINDINGS: Liver transplant represents a mode of gene replacement therapy for several disorders, including Wilson disease, hemochromatosis, tyrosinemia, urea cycle defects and hypercholesterolemia in which the primary defect residing in the liver results in hepatic complications or severe extrahepatic disease. Liver transplant is also an important therapeutic modality in multisystemic genetic disorders with major hepatic disease such as glycogen storage disease types I, III and IV and porphyria. For familial amyloidosis and primary hyperoxaluria, liver replacement eliminates the source of the injurious products that results in extrahepatic disease. Innovations in medical and surgical management of these patients have led to improved outcomes providing an important benchmark for future gene therapy of these disorders. SUMMARY: Recent developments have refined the indications for liver transplant in the treatment of inherited metabolic diseases. The full potential of liver transplant in these disorders can be harnessed by careful patient selection, optimizing timing and perioperative metabolic management of these patients.

[Liver transplantation--indications, surgical technique, results--the analysis of a clinical series of 200 cases]. / Transplantul hepatic--indicati, tehnica, rezultate-analiza unei serii clinice de 200 de cazuri.

INTRODUCTION: Initially considered experimental, liver transplantation (LT) has become the treatment of choice for the patients with end-stage liver diseases. MATERIAL AND METHODS: Between April 2000 and October 2009, 200 LTs (10 reLTs) were performed in 190 patients, this study being retrospective. There were transplanted 110 men and 80 women, 159 adults and 31 children with the age between 1 and 64 years old (mean age--39.9). The main indication in the adult group was represented by viral cirrhosis, while the pediatric series the etiology was mainly glycogenosis and biliary atresia. There were performed 143 whole graft LTs, 46 living donor LTs, 6 split LTs, 4 reduced LTs and one domino LT RESULTS: The postoperative survival was 90% (170 patients). The patient and graft one-year and five-year survivals were 76.9%, 73.6% and 71%, 68.2%, respectively. The early complications occurred in 127 patients (67%). The late complications were recorded in 71 patients (37.3%). The intraoperative and early postoperative mortality rate was 9.5% (18 patients). CONCLUSIONS: The Romanian liver transplantation program from Fundeni includes all types of current surgical techniques and the results are comparable with those from other international centers.

Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure.

GSD-I, III, and IV are congenital disorders of glycogen metabolism that are commonly associated with severe liver disease. Liver transplantation has been proposed as a therapy for these disorders. While liver transplantation corrects the primary hepatic enzyme defect, the extrahepatic manifestations of GSD often complicate post-transplantation management. Upon review of the English-language literature, 42 children <19 yr of age were discovered to have undergone liver transplantation for complications associated with GSD (18 patients with GSD-Ia, six with GSD-Ib, one with GSD-III, 17 with GSD-IV). An additional two children followed at our institution have undergone liver transplantation for GSD complications (one with GSD-Ia and one with GSD-III) and are included in this review. The risks and benefits of liver transplantation should be considered prior to performing liver transplantation in these metabolic disorders, particularly in GSD-Ia. As liver pathology is not the major source of morbidity in GSD-Ib and GSD-IIIa, liver transplantation should only be performed when there is high risk for HCC or evidence of substantial cirrhosis or liver dysfunction. Liver transplantation remains the best option for treatment of GSD-IV.

Outflow tract reconstruction in living donor liver transplantation.

BACKGROUND: Hepatic venous reconstruction is critical in living donor liver transplantation because outflow obstruction may lead to graft dysfunction or loss. We describe our experience and analyze outcomes with a technique of creating a single outflow tract using venoplasties of the graft and recipient hepatic veins. PATIENTS AND METHODS: A retrospective study was done on 38 consecutive living donor liver transplants performed from June 1994 to March 2000. The grafts included 36 left-side grafts and 2 right-side grafts. Nine grafts had multiple hepatic veins and required a venoplasty of two or three hepatic veins to create a single outflow orifice. Triple recipient hepatic venoplasty was performed in 32 patients, double venoplasty in 5 and none in 1. RESULTS: There were four cases of outflow obstruction, three occurring in patients with a double recipient venoplasty. Two of the problems were remedied intraoperatively by adjusting the position of the graft although two were structural in nature and required the insertion of expandable metallic vascular stents. All donors and recipients with their original grafts are alive at a mean follow-up period of 27 months. CONCLUSION: A triple recipient venoplasty with a matching venoplasty of multiple graft hepatic veins to create a single wide outflow orifice is recommended in living donor liver transplantation using left side grafts.

The ripple effect of liver transplantation.

Apart from its own intrinsic importance, liver transplantation has been the stimulus for development of better techniques of hepatic surgery and for a better understanding of hepatic physiology. A particularly important off-shoot of transplantation has been the recognition that factors (called hepatotrophic) are present in the portal blood. The nature of these factors and their influence on the liver have been discussed, as well as the clinical implications of the hepatotrophic concept.

The Eck fistula in animals and humans.

In all species so far studied, including man, portacaval shunt causes the same changes in liver morphology, including hepatocyte atrophy, fatty infiltration, deglycogenation, depletion and disorganization of the rough endoplasmic reticulum (RER) and its lining polyribosomes, and variable but less specific damage to other organelles. Many, perhaps all, biosynthetic processes are quickly depressed, largely secondary to the selective damage to the RER, which is the "factory" of the cell. These structural and metabolic changes in the liver after portal diversion are caused by the diversion around the liver of the hepatotrophic substances in portal venous blood, of which endogenous insulin is the most important. In experimental animals, the injury of Eck's fistula can be prevented by infusing insulin into the tied-off hilar portal vein. The subtle but far-reaching changes in hepatic function after portal diversion have made it possible to use this procedure in palliating three inborn errors of metabolism: glycogen storage disease, familial hypercholesterolemia, and alpha 1-antitrypsin deficiency. In these three diseases, the abnormalities caused by portal diversion have counteracted abnormalities in the patients that were caused by the inborn errors. In these diseases, amelioration of the inborn errors depends on the completeness of the portal diversion. In contrast, total portal diversion to treat complications of portal hypertension is undesirable and always will degrade hepatic function if a significant amount of hepatopetal portal venous blood is taken from the liver. When total portal diversion is achieved (and this is to be expected after all conventional shunts), the incidence of hepatic failure and hepatic encephalopathy is increased. If portal diversion must be done for the control of variceal hemorrhage, a selective procedure such as the Warren procedure is theoretically superior to the completely diverting shunt. In practice, better patient survival has not been achieved after selective shunts than after conventional shunts, but the incidence of hepatic encephalopathy has been less.

Immune protection of auxiliary liver to other allograft: report of 3 cases.

OBJECTIVE: To assess the immune status of auxiliary liver transplantation and to clarify the immune protection of auxiliary liver to other allograft. METHODS: Immunological markers and pathological changes in 3 patients undergoing auxiliary liver transplantation were analysed. RESULTS: The lower the concentration of immunosuppressive agent, the less the rejection and the milder the intensity in the 3 patients. The function of allograft after auxiliary liver transplantation was excellent. CONCLUSIONS: Patients are in a low immune reaction state after auxiliary liver transplantation. Auxiliary liver can protect other allografts by related immunological mechanisms. The side-effects of low-concentration immunosuppressive agents on auxiliary liver and other allografts are mild.

Living-related liver transplantation in Africa.

Liver transplantation is an effective therapy for end stage liver disease. Nevertheless in many areas of the world organ availability remains a major problem. We report here the success of the first living-related liver transplantation in Africa. The left lateral lobe of the mother was transplanted orthotopically to her 6 year old child suffering from liver cirrhosis complicating glycogen storage disease. The social and medical problems encountered are discussed. Living-related liver transplantation is a viable option in countries where cadaveric organ donation is either illegal or socially unacceptable.

[A patient with visceromegaly: risk factor for performing percutaneous endoscopic gastrostomy. A clinical case]. / Paciente con visceromegalia: situación de riesgo en la realización de una gastrostomía endoscópica percutánea. Caso clinico.

Percutaneous endoscopic gastrostomy is an easy and safe technique to provide an enteral access for patients needing long-term enteral nutrition. Minor complications may occur in 9% to 13% of patients. Life-threatening complications appear in 1-3% of cases. Perforation of a hollow viscus leading to peritonitis is a rare condition; hepatic perforation after placing a percutaneous endoscopic gastrostomy (PEG) has not been reported previously. In patients with massive visceromegaly an abdominal ultrasound may help in localizing the place of punction avoiding surrounding organs.

[Allogenic liver transplantation: a form of "gene therapy" in metabolic diseases. Munich results and a review]. / Die allogene Lebertransplantation--eine Form der "Gentherapie" bei metabolischen Erkrankungen. Münchener Ergebnisse und Ubersicht.

INTRODUCTION: Liver transplantation is the method of choice for metabolic diseases and end-stage liver failure. METHODS: At the Klinikum Grosshadern we have performed liver transplantation for inborn errors of metabolism in 24 patients (5.3% of all transplantations, 16 adults, age 39 +/- 13 years; 8 children, age 9 +/- 3 years); 19 patients received a transplant for end-stage liver disease, and in 5 cases because of fulminant hepatic failure. RESULTS: Twenty-four patients received 27 transplants. In 3 cases, a split-liver transplantation was performed; one patient received a combined lung-liver graft. The 5-year survival rate for children is 100% and for adults 68%. CONCLUSIONS: Liver transplantation for inborn errors of metabolism not only replaces the diseased organ, but also leads to complete reversal of the metabolic defect.

[Surgical therapy of metabolic liver diseases (glycogenosis, hypercholesterolemia)]. / Terapia chirurgica delle malattie metaboliche epatiche (glicogenosi, ipercolesterolemia).

Up-to-date, most patients with serious chronic hepatic disease are best treated by liver transplantation. It has been confirmed the striking benefit of liver transplantation also for patients with glycogen storage disease or homozygous familial hypercholesterolemia who were refractory to medical treatment. Nevertheless, the advantage of achieving palliation without transplantation, thereby avoiding the need for chronic immunosuppression, is obvious. With reference to the mentioned above diseases, end-to-side portacaval shunt was used. A favourable effect was noted on body growth and a number of metabolic abnormalities. Hepatic failure did not occur, although in a few patients blood ammonia concentrations and serum alkaline phosphatase levels increased relative to preoperative values. To avoid an incomplete palliation provided by portacaval shunt, appropriate case selection is a problem. The Authors report their personal experience with portacaval shunt for the treatment of glycogenosis and familial hypercholesterolemia.

Hemodynamic changes during the anhepatic phase in pediatric patient with biliary atresia versus glycogen storage disease undergoing living donor liver transplantation.

OBJECTIVE: The aim of this study was to compare the hemodynamic changes caused by clamping of the inferior vena cava and portal vein in biliary atresia (BA) versus glycogen storage disease (GSD) patients undergoing living-donor liver transplantation (LDLT) without venovenous bypass. METHODS: We reviewed retrospectively the anesthesia charts of pediatric LDLT patients. Age, weight, height, blood loss, blood product use and fluid replacement between groups were compared with Mann-Whitney test, and systolic blood pressure (SBP), heart rate (HR), central venous pressure (CVP) before clamping of the inferior vena cava, and 4 measurements during anhepatic phase and 5 minutes after reperfusion were compared with analysis of variance. RESULTS: One hundred four BA patients (GI) and 12 GSD patients (GII) showed mean total blood loss among GI to be more than among GII, but the blood products and crystalloids infused during the operation were not significantly different. The changes of SBP, HR, and CVP after clamping of the IVC were significantly different between groups. CVP of GII was lower than GI, indicating that venous return among GII was more affected, subsequently showing lower SBP and higher HR. CONCLUSIONS: Total clamping of the inferior vena cava resulted a greater decrease in CVP in GII with subsequently lower SBP and faster HR compared with GI.