RESUMO
Glycogen storage disease type 1 is a congenital abnormality of metabolism caused by the deficiency of the glucose-6-phosphatase enzyme, essential in glucose homeostasis. Patients with this disease are at high risk of developing hypoglycemia, hyperlipidemia, lactic acidemia, growth retardation, neutropenia, inflammatory bowel disease, and many other severe complications, such as hepatic adenomas converting into hepatocellular carcinomas. To prevent these complications, a liver transplant is the ultimate method of treatment. We present the successful anesthesia management for a 21-year-old man who had gross hepatomegaly, severe hypoglycemia, and hyperlactatemia and who received a liver transplant from his mother, which is a substantial challenge for anesthesiologists. Anesthesiologists should know the underlying pathophysiological condition and perform a comprehensive preoperative evaluation to determine the correct anesthesia plan in patients with glycogen storage disease type 1 who will undergo an orthotopic liver transplant due to multiple system disorders. Successful perioperative management of patients with glycogen storage disease type 1 relies on effective communication and collaboration between specialists through a multidisciplinary team approach.
Assuntos
Doença de Depósito de Glicogênio Tipo I , Transplante de Fígado , Humanos , Doença de Depósito de Glicogênio Tipo I/cirurgia , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Masculino , Resultado do Tratamento , Adulto Jovem , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Doadores Vivos , Hiperlactatemia/etiologia , Hiperlactatemia/diagnósticoRESUMO
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.
Assuntos
Doença de Depósito de Glicogênio Tipo III , Doença de Depósito de Glicogênio Tipo I , Doença de Depósito de Glicogênio Tipo VI , Doença de Depósito de Glicogênio , Transplante de Fígado , Doença de Depósito de Glicogênio/diagnóstico , Doença de Depósito de Glicogênio/metabolismo , Doença de Depósito de Glicogênio/cirurgia , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/metabolismo , Doença de Depósito de Glicogênio Tipo I/cirurgia , Doença de Depósito de Glicogênio Tipo III/complicações , Doença de Depósito de Glicogênio Tipo III/metabolismo , Doença de Depósito de Glicogênio Tipo VI/complicações , Doença de Depósito de Glicogênio Tipo VI/metabolismo , Humanos , Fígado/metabolismo , Estudos RetrospectivosRESUMO
BACKGROUND: LT is an elective treatment choice for children diagnosed with GSD1b that can improve their quality of life and stabilize their glucose intolerance. However, careful attention should be paid to immunosuppression after LT due to the susceptibility to infection because of neutropenia and neutrophil dysfunction in GSD1b patients. This study revealed the immunological features and complications in the early post-LT period. METHODS: We compared findings between 11 (1.9%) children with GSD1b and 273 children with BA. Analyses using the PSM were performed to overcome selection bias. RESULTS: Despite persistent low tacrolimus trough levels in GSD1b patients, none of these children developed TCMR within 1 month after LDLT (GSD1b: 0/11 [0%] vs. BA: 86/273 [31.5%], p = .038). This result was also confirmed in PSM. The incidence of bloodstream infections was higher in GSD1b patients than in BA patients in the early phase of the post-transplant period (GSD1b: 4/11 [36.4%] vs. BA: 33/273 [12.1%], p = .041), but not reach statistical significance in PSM. In a phenotypic analysis, the ratio of CD8+ T cells in GSD1b recipients' peripheral blood mononuclear cell samples was lower than in recipients with BA through the first month after LDLT. CONCLUSIONS: We found that GSD1b recipients were more likely to develop postoperative bloodstream infection than recipients with BA but did not experience TCMR despite low tacrolimus levels in the early post-LDLT period. A tailored immunosuppression protocol should be prepared for GSD1b recipients after LDLT.
Assuntos
Doença de Depósito de Glicogênio Tipo I/imunologia , Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Fígado , Complicações Pós-Operatórias/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Sobrevivência de Enxerto , Humanos , Incidência , Lactente , Doadores Vivos , Masculino , Qualidade de VidaRESUMO
Patients with GSD type 1 (von Gierke disease) are initially managed medically to maintain normoglycemia. However, if they do not achieve good metabolic control, LT is then considered. We describe the long-term outcome of 6 children with GSD type 1 who underwent LT. Retrospective chart review of the data of 6 children with GSD type 1 who underwent LT at National University Hospital, Singapore, from May 1998 to October 2018, was performed. The median (IQR) age at diagnosis of the GSD was 1 year (0.92-5.50) and at transplant was 13.88 years (11.46-16.38). All of the patients had elevated liver enzymes, hypercholesterolemia, hypertriglyceridemia, and hyperlactatemia prior to transplant. All of the patients are alive at the time of analysis and follow-up. None of them required a re-transplant. For the three patients who had hypoglycemia pretransplant, there was no recurrence post-transplant. All of the patients had normalization of liver enzymes by 1 year post-transplant. Long-term outcome of patients with GSD who underwent LT has been positive with improvement in metabolic control for most patients. We report the unusual finding of two siblings with persistent hyperuricemia post-transplant requiring allopurinol.
Assuntos
Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Fígado , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Glycogen storage disease (GSD) type 1b (Online Mendelian Inheritance in Man [OMIM] 232220) is an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphate translocase. GSD1b patients have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. Liver transplantation (LT) has been indicated for severe glucose intolerance, poor metabolic control (PMC), and poor growth (PG). We retrospectively reviewed 11 children with GSD1b who underwent living donor liver transplantation (LDLT) at the National Center for Child Health and Development in Tokyo, Japan. Between November 2005 and December 2018, 495 children underwent LDLT with an overall 10-year patient and graft survival of 90.6% and 88.9%, respectively. Of these, LT was indicated for 11 patients with GSD1b. All patients are doing well with the stabilization of glucose intolerance and decreased hospitalization for infectious complications. Demand for granulocyte colony-stimulating factor significantly decreased. However, although LT stabilized the blood glucose level, the platelet function was not improved. The posttransplant developmental quotient (DQ) remained similar to the pretransplant DQ without deterioration. LDLT is a feasible procedure for GSD1b patients with regard to the longterm prognosis. LT should be considered for patients with severe glucose intolerance to protect the cognitive function against hypoglycemic encephalopathy and to ameliorate PMC and PG.
Assuntos
Doença de Depósito de Glicogênio Tipo I , Transplante de Fígado , Criança , Doença de Depósito de Glicogênio Tipo I/cirurgia , Fator Estimulador de Colônias de Granulócitos , Humanos , Japão , Transplante de Fígado/efeitos adversos , Doadores Vivos , Estudos RetrospectivosRESUMO
ABSTRACT Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b. Case description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent otorhinolaryngology surgery, showing the importance of multidisciplinary interaction to avoid episodes of hypoglycemia. Comments: Patients with glycogen storage disease type 1b present recurrent infections, including the otorhinolaryngology affections. When there is an indication for surgical treatment, the caloric intake should be carefully followed in order to prevent hypoglycemia. The way to ensure this is to perform the pre and postoperative period in the hospital ward. In the postoperative period, it is important to make a slow transition between the intravenous and oral routes and not suspend the infusion of glucose during the surgical procedure. The cases illustrate the need for the interaction of the otorhinolaryngologic surgeon with the anesthesiologist, the pediatrician and the gastro-pediatrician in the management of these patients, avoiding hypoglycemic episodes.
RESUMO Objetivo: Discutir aspectos de pré e pós-operatório de cirurgia otorrinolaringológica em pacientes com glicogenose tipo 1b. Descrição do caso: Descrição de três casos clínicos com provável glicogenose tipo 1b, que se submeteram à cirurgia otorrinolaringológica, mostrando a importância da interação multidisciplinar para evitar os episódios de hipoglicemia. Comentários: Pacientes com glicogenose tipo 1b apresentam infecções de repetição, incluindo as otorrinolaringológicas. Quando há indicação de tratamento cirúrgico, deve-se observar a garantia de aporte calórico para evitar hipoglicemia. A maneira de fazer isso é efetuar o pré e pós-operatório em enfermaria, tomando-se o cuidado, no pós-operatório, de realizar uma transição lenta entre a via endovenosa e a via oral e de não suspender a infusão de glicose durante o procedimento cirúrgico. Os casos ilustram a necessidade da interação do otorrinolaringologista com o anestesista, o pediatra e o gastropediatra na condução desses pacientes para que não desenvolvam hipoglicemia.
Assuntos
Humanos , Feminino , Criança , Tonsilectomia , Ventilação da Orelha Média , Adenoidectomia , Doença de Depósito de Glicogênio Tipo I/cirurgia , Assistência Perioperatória/métodosRESUMO
OBJECTIVE: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b. CASE DESCRIPTION: Description of three clinical cases with probable glycogen storage disease type 1b who underwent otorhinolaryngology surgery, showing the importance of multidisciplinary interaction to avoid episodes of hypoglycemia. COMMENTS: Patients with glycogen storage disease type 1b present recurrent infections, including the otorhinolaryngology affections. When there is an indication for surgical treatment, the caloric intake should be carefully followed in order to prevent hypoglycemia. The way to ensure this is to perform the pre and postoperative period in the hospital ward. In the postoperative period, it is important to make a slow transition between the intravenous and oral routes and not suspend the infusion of glucose during the surgical procedure. The cases illustrate the need for the interaction of the otorhinolaryngologic surgeon with the anesthesiologist, the pediatrician and the gastro-pediatrician in the management of these patients, avoiding hypoglycemic episodes.
Assuntos
Adenoidectomia , Doença de Depósito de Glicogênio Tipo I/cirurgia , Ventilação da Orelha Média , Assistência Perioperatória/métodos , Tonsilectomia , Criança , Feminino , HumanosRESUMO
The aim of this study was to collect data from patients who underwent liver transplantation (LT) for adenomatosis; to analyze the symptoms, the characteristics of the disease, and the recipient outcomes; and to better define the role of LT in this rare indication. This retrospective multicenter study, based on data from the European Liver Transplant Registry, encompassed patients who underwent LT for adenomatosis between January 1, 1986, and July 15, 2013, in Europe. Patients with glycogen storage disease (GSD) type IA were not excluded. This study included 49 patients. Sixteen patients had GSD, and 7 had liver vascular abnormalities. The main indications for transplantation were either a suspicion of hepatocellular carcinoma (HCC; 15 patients) or a histologically proven HCC (16 patients), but only 17 had actual malignant transformation (MT) of adenomas. GSD status was similar for the 2 groups, except for age and the presence of HCC on explants (P = 0.030). Three patients with HCC on explant developed recurrence after transplantation. We obtained and studied the pathomolecular characteristics for 23 patients. In conclusion, LT should remain an extremely rare treatment for adenomatosis. Indications for transplantation primarily concern the MT of adenomas. The decision should rely on morphological data and histological evidence of MT. Additional indications should be discussed on a case-by-case basis. In this report, we propose a simplified approach to this decision-making process.
Assuntos
Adenoma de Células Hepáticas/cirurgia , Carcinoma Hepatocelular/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado/estatística & dados numéricos , Doenças Raras/cirurgia , Adenoma de Células Hepáticas/patologia , Adulto , Carcinoma Hepatocelular/patologia , Tomada de Decisão Clínica/métodos , Estudos de Coortes , Europa (Continente)/epidemiologia , Feminino , Doença de Depósito de Glicogênio Tipo I/cirurgia , Humanos , Neoplasias Hepáticas/patologia , Masculino , Sistema de Registros/estatística & dados numéricos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Instead of dietary modification, surgical management is considered for correcting growth retardation, poor metabolic control, and hepatocellular adenoma (HCA) in glycogen storage disease (GSD) type I. METHODS: The records of 55 GSD type I patients were retrospectively reviewed. Thirty-two patients underwent only dietary management (group D) and 23 underwent surgical management (group S). In group S, 17 underwent portacaval shunting (PCS), 13 underwent liver transplantation (LT; 7 underwent both PCS and LT). Height-for-age and body mass index-for-age Z-scores based on World Health Organization data were used to compare growth patterns before and after surgery. Changes in metabolic abnormalities and HCA after operation were also investigated. RESULTS: Height-for-age Z-scores for group S were higher by an average of 0.377 compared to that for group D. Metabolic abnormalities often disappeared after LT but improved partially after PCS. De novo HCA was detected in 4 patients (13%) from group D, 12 (100%) who underwent PCS, and none who underwent LT. One case of hepatocellular carcinoma and one of hemorrhage from a HCA were noted in group D. Two cases of hepatocellular carcinoma, 2 of hemorrhage, and 1 of necrosis were noted after PCS. CONCLUSIONS: Surgery yielded greater growth improvement than dietary management. However, after PCS, metabolic abnormalities remained unresolved, and the de novo HCA rate was high. Portacaval shunting can be used to improve growth in GSD type I patients when LT is not possible, but close observation for metabolic abnormalities and HCA is essential.
Assuntos
Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Fígado , Derivação Portocava Cirúrgica , Adenoma de Células Hepáticas/etiologia , Adenoma de Células Hepáticas/prevenção & controle , Adolescente , Adulto , Fatores Etários , Estatura , Carcinoma Hepatocelular/etiologia , Carcinoma Hepatocelular/prevenção & controle , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Doença de Depósito de Glicogênio Tipo I/dietoterapia , Doença de Depósito de Glicogênio Tipo I/mortalidade , Humanos , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/prevenção & controle , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Masculino , Doenças Metabólicas/etiologia , Doenças Metabólicas/prevenção & controle , Derivação Portocava Cirúrgica/efeitos adversos , Derivação Portocava Cirúrgica/mortalidade , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/prevenção & controle , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Análise de Sobrevida , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex. GSDIa is characterized by fasting intolerance and subsequent metabolic derangements. In addition to these clinical manifestations, patients with GSDIb suffer from neutropenia with neutrophil dysfunction and inflammatory bowel disease.With the feasibility of novel cell-based therapies, including hepatocyte transplantations and liver stem cell transplantations, it is essential to consider long term outcomes of liver replacement therapy. We reviewed all GSDI patients with liver transplantation identified in literature and through personal communication with treating physicians. Our review shows that all 80 GSDI patients showed improved metabolic control and normal fasting tolerance after liver transplantation. Although some complications might be caused by disease progression, most complications seemed related to the liver transplantation procedure and subsequent immune suppression. These results highlight the potential of other therapeutic strategies, like cell-based therapies for liver replacement, which are expected to normalize liver function with a lower risk of complications of the procedure and immune suppression.
Assuntos
Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Fígado , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto JovemRESUMO
Von Gierke's disease or glycogen storage disease type Ia (GSD-Ia) is an infrequent metabolic disease caused by an atypical accumulation of glycogen. The principal cause of this pathology is deficiency of the glucose-6-phosphatase enzyme. Herein we have reported a case of a young man with a history of Von Gierke's disease (GSD-Ia) since childhood who developed hepatocellular adenomatosis brought to light by ultrasounds and TACs. The patient began to develop early chronic renal failure, necessitating simultaneous liver and kidney transplantation. Years later continuous reviews at the nephrology and hepatobiliopancreatic surgery services show he has a good quality of life and a normal hepatorenal profile.
Assuntos
Adenoma de Células Hepáticas/cirurgia , Doença de Depósito de Glicogênio Tipo I/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Adenoma de Células Hepáticas/diagnóstico , Adenoma de Células Hepáticas/etiologia , Adulto , Progressão da Doença , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Humanos , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/etiologia , Falência Renal Crônica/cirurgia , Transplante de Rim , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/etiologia , Masculino , Qualidade de Vida , Fatores de Tempo , Resultado do TratamentoAssuntos
Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Fígado/métodos , Fígado/cirurgia , Doadores Vivos , Criança , Feminino , Seguimentos , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Hepatectomia/métodos , Humanos , Lactente , Fígado/patologia , Imageamento por Ressonância Magnética , Masculino , Federação Russa , Fatores de Tempo , Coleta de Tecidos e Órgãos/métodosRESUMO
GSD type 1b is an autosomal recessive inborn error of carbohydrate metabolism caused by defects of the G6Pase translocase (G6PT). Patients with GSD1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. LT has been indicated for severe glucose intolerance. This study retrospectively reviewed glycemic management of eight children with a diagnosis of GSD1b who underwent liver transplantation (LDLT). Between November 2005 and September 2011, 172 children underwent LDLT, of which eight (4.7%) were indicated for GSD1b. Glucose-rich solution was placed in all children when preoperative fasting started to prevent preoperative hypoglycemia. During the reperfusion of graft, the glucose administration could significantly be reduced to maintain the proper blood glucose level, while the dosage of glucose administration prior to reperfusion of graft was significantly higher in the patients with GSD1b in comparison with patients with BA. The current series also showed significantly high incidence of infectious complications in the patients with GSD1b owing to persistent neutropenia after LDLT. All patients are doing well with an excellent quality of life owing to the stabilization of glucose intolerance. This current study clearly documented drastic change in glycemic management in LDLT. Cautious perioperative management to prevent hypoglycemia and infection is crucial for successful LT.
Assuntos
Glucose/uso terapêutico , Doença de Depósito de Glicogênio Tipo I/cirurgia , Hipoglicemia/prevenção & controle , Complicações Intraoperatórias/prevenção & controle , Transplante de Fígado , Doadores Vivos , Complicações Pós-Operatórias/prevenção & controle , Criança , Pré-Escolar , Feminino , Intolerância à Glucose/etiologia , Doença de Depósito de Glicogênio Tipo I/complicações , Humanos , Hipoglicemia/etiologia , Lactente , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism due to intracellular enzyme deficiency resulting in abnormal storage of glycogen in tissues. GSD represents an indication for liver transplantation (OLT) when medical treatment fails to control the metabolic dysfunction and/or there is an high risk of malignant transformation of hepatocellular adenomas (HCA). Herein we have reported two cases of GSD, type Ia and type VI, which were both associated with rapidly growing HCA, and underwent OLT because of suspect changes in their radiological features. Final histological findings in the explanted liver showed the presence of hepatocellular carcinoma (HCC) in both cases. In GSD type Ia and VI, OLT is considered to be the treatment of choice when a liver neoplasm is suspected. While the association of HCC with GSD type Ia is well known, this is the first case of HCC in GSD type VI so far reported to the best of our knowledge.
Assuntos
Carcinoma Hepatocelular/etiologia , Doença de Depósito de Glicogênio Tipo IV/complicações , Doença de Depósito de Glicogênio Tipo I/complicações , Neoplasias Hepáticas/etiologia , Adulto , Carcinoma Hepatocelular/secundário , Carcinoma Hepatocelular/cirurgia , Evolução Fatal , Feminino , Doença de Depósito de Glicogênio Tipo I/cirurgia , Doença de Depósito de Glicogênio Tipo IV/cirurgia , Humanos , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto JovemRESUMO
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.
Assuntos
Adenoma de Células Hepáticas/cirurgia , Glomerulosclerose Segmentar e Focal/cirurgia , Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Rim , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Adenoma de Células Hepáticas/etiologia , Adulto , Progressão da Doença , Feminino , Glomerulosclerose Segmentar e Focal/etiologia , Doença de Depósito de Glicogênio Tipo I/complicações , Humanos , Neoplasias Hepáticas/etiologia , Resultado do TratamentoRESUMO
Angiographic Moyamoya is a rare cerebrovascular disease most frequent in asia. Its characateristics are recurrent ischemic attacks due to progressive occlusion of ICA branches. Angiography reveals fine arterial collateralisation reminding of ascending smoke ("moyamoya" in japanese). Neurosurgical treatment strategies include direct and indirect reanastomosation procedures. Randomised trials for comparison of clinical outcome and long term survival remain missing. A 23 years old female with glycogenosis type IA was first diagnosed bilateral angiographic moyamoya with bilateral proximal stenosis of ICA after transient ischemic attack (TIA). Coincidence of both rare diseases moyamoya and glycogenosis has previously been reported in three cases, so that this metabolic dysfunction presumably is a true risk factor for moyamoya. In our case, excellent angiographic and functional results were achieved by bilateral, consecutive Enzephalo-Duro-Arterio-Myo-Synangiosis (EDAMS).
Assuntos
Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/patologia , Doença de Moyamoya/complicações , Doença de Moyamoya/patologia , Procedimentos Neurocirúrgicos , Procedimentos Cirúrgicos Vasculares , Artéria Carótida Interna/patologia , Estenose das Carótidas/patologia , Angiografia Cerebral , Feminino , Doença de Depósito de Glicogênio Tipo I/cirurgia , Humanos , Ataque Isquêmico Transitório/complicações , Ataque Isquêmico Transitório/patologia , Angiografia por Ressonância Magnética , Doença de Moyamoya/cirurgia , Neovascularização Patológica/patologia , Neovascularização Patológica/terapia , Adulto JovemRESUMO
Glycogen storage disease type 1b (GSD-1b) is due to an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphatase translocase. Patients with GSD-1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. Liver transplantation has been indicated for severe glucose intolerance. This study retrospectively reviewed 4 children with a diagnosis of GSD-1b who underwent living-donor liver transplantation (LDLT). Between November 2005 and June 2008, 96 children underwent LDLT with overall patient and graft survival of 92.3%. Of these, 4 (4.2%) were indicated for GSD-1b. All patients are doing well with an excellent quality of life because of the stabilization of glucose intolerance, decreased hospital admission, and normalized neutrophil count. LDLT appears to be a feasible option and is associated with a better quality of life for patients with GSD-1b. Long-term observation may be necessary to collect sufficient data to confirm the efficacy of this treatment modality.
Assuntos
Doença de Depósito de Glicogênio Tipo I/cirurgia , Transplante de Fígado , Doadores Vivos , Adolescente , Criança , Pré-Escolar , Feminino , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/mortalidade , Sobrevivência de Enxerto , Hospitalização , Humanos , Hipoglicemia/etiologia , Hipoglicemia/prevenção & controle , Lactente , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Masculino , Qualidade de Vida , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND/AIMS: Hepatocellular carcinoma (HCC) most often occurs within hepatocellular adenomas (HCAs) in glycogen storage disease Ia (GSD Ia) patients. The objective of this retrospective study is to assess outcomes after liver transplantation (LT) for GSD Ia where the principal indication for transplantation was prevention of HCC. METHODS: Petitions to the United Network for Organ Sharing region 11 review board for additional model for end-stage liver disease listing points were made on behalf of GSD Ia patients. Demographics, pre-operative comorbidity, and outcomes for GSD Ia patients who underwent LT were reviewed. RESULTS: Between 2004 and 2006, five GSD Ia patients underwent LT. Multiple HCAs with focal hemorrhage and/or necrosis but without histological evidence of malignancy were identified in all explanted specimens. Four of five patients had complications after LT, including cytomegalovirus (CMV) infections and steroid responsive allograft rejection. Hemoglobin levels and serum triglyceride, total cholesterol, blood glucose, and lactic acid concentrations improved in all patients after LT. Corn starch feeding was not required in any patient after LT. Renal function worsened in three patients despite modifications to primary immunosuppressive medications. All patients are alive at last follow-up (range 25-48 months) and all post-transplant complications have resolved. CONCLUSIONS: By removing all possible adenomatous tissue and reversing the underlying hepatic enzymatic deficiency, LT provides definitive prevention against HCC and correction of most metabolic derangements in GSD Ia patients. Renal dysfunction secondary to GSD Ia persists--underscoring the need for further studies to better understand the mechanisms of renal dysfunction in these patients.
Assuntos
Carcinoma Hepatocelular/prevenção & controle , Doença de Depósito de Glicogênio Tipo I/cirurgia , Neoplasias Hepáticas/prevenção & controle , Transplante de Fígado , Adulto , Glicemia/metabolismo , Colesterol/sangue , Seguimentos , Doença de Depósito de Glicogênio Tipo I/metabolismo , Humanos , Rim/fisiopatologia , Ácido Láctico/sangue , Fígado/metabolismo , Fígado/patologia , Fígado/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Triglicerídeos/sangueRESUMO
BACKGROUND: Glycogen storage disease (GSD) is an inherited metabolic disorder in which the concentration and/or structure of glycogen in tissues is abnormal. Essentially, abnormalities in all known enzymes involved in the synthesis or degradation of glycogen and glucose have been found to cause some type of GSD. Liver and muscle have abundant quantities of glycogen and are the most common and seriously affected tissues. This study was to assess reduced-size liver transplantation for the treatment of GSD. METHODS: The clinical data from one case of GSD type I with hepatic adenoma was retrospectively analyzed. The clinical manifestations were hepatomegaly, delayed puberty, growth retardation, sexual immaturity, hypoglycemia, and lactic acidosis, which made the young female patient eligible for reduced-size liver transplantation. RESULTS: The patient recovered uneventfully with satisfactory outcome, including 12 cm growth in height and 5 kg increase in weight during 16 months after successful reduced-size liver transplantation. She has been living a normal life for 4 years so far. CONCLUSIONS: Reduced-size liver transplantation is an effective treatment for GSD with hepatomegaly and hepatic adenoma. Delayed puberty, growth retardation, hypoglycemia and lactic acidosis can be cured by surgery.
Assuntos
Adenoma de Células Hepáticas/cirurgia , Doença de Depósito de Glicogênio Tipo I/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado/métodos , Adenoma de Células Hepáticas/complicações , Feminino , Doença de Depósito de Glicogênio Tipo I/complicações , Hepatomegalia/etiologia , Hepatomegalia/cirurgia , Humanos , Neoplasias Hepáticas/complicações , Tamanho do Órgão , Adulto JovemRESUMO
We report a case of a pediatric patient who received a right-extended liver transplant. The size of the recipient hepatic artery did not match with the donor right hepatic arterial stump. Moreover, recipient arterial anatomy made the direct anastomosis difficult or at increased risk for complications. The recipient's splenic artery was then mobilized, divided and anastomosed to the donor's right hepatic artery. The spleen was preserved and revascularization through collaterals is demonstrated by Angio CT Scan. Doppler US of the transplanted liver demonstrated good flow through the liver and the patient was discharged with perfect liver function. Splenic artery is perfectly suited for hepatic artery anastomosis. The use of splenic artery is favored in particular situations as in the case of a pediatric recipient receiving a right-extended liver graft with small caliber artery.