Errores innatos del metabolism en un hospital pediátrico. Diferencias sustanciales entre la era pre y postcribado neonatal ampliado / Innate errors of metabolism in a pediatric hospital. Substantial differences between the extended neonatal pre- and post screening era

Introducción. Las aminoacidopatías son enfermedades metabólicas hereditarias (EMH) que sin diagnóstico ni tratamiento precoz pueden producir consecuencias graves, llegando incluso a la muerte. La introducción del programa de cribado neonatal mediante espectrometría de masas en tándem (MS/MS) pretende mejorar el pronóstico. El objetivo del estudio es comparar la evolución clínica de pacientes diagnosticados de aminoacidopatías en fase clínica frente a los resultantes del cribado neonatal. Material y métodos. Estudio descriptivo retrospectivo de pacientes diagnosticados de metabolopatías entre Enero de 2002 y Junio de 2015. El cribado ampliado de EIM mediante MS/MS se está empleando en nuestro centro desde abril de 2010. Resultados. Han sido diagnosticados en nuestra unidad en estos 13 años 245 casos de EMH. Agrupándolos por patologías: 152 trastornos del metabolismo de las proteínas, 27 trastornos del metabolismo de los carbohidratos, 33 trastornos del metabolismo lipídico, 12 enfermedades lisosomales, 2 enfermedades peroxisomales, 4 defectos congénitos de glicosilación de proteínas, 10 casos de enfermedad de Wilson y 5 de deficiencia de alfa-1 antitripsina. Del total de la serie, 19 pacientes son de origen magrebí (7,7%) y un 52 % de sexo femenino. De los casos que debutaron en cuidados intensivos pediátricos la mayoría de los pacientes requirieron apoyo agresivo, incluyendo ventilación mecánica y terapia de eliminación extracorpórea (7 diálisis peritoneal, 6 hemofiltración veno-venosa continua), así como fármacos vasoactivos. De todos los pacientes, sufrieron datos de shock 15 niños, fallo multiorgánico 6, grave insulto neurológico 8, coagulopatía 3 y fallo hepático agudo 3. Discusión. La descompensación aguda de una metabolopatía, como en otros EIM, es una emergencia metabólica que debemos diagnosticar y tratar precozmente, por su elevada morbimortalidad. La instauración del cribado ampliado ha logrado el tratamiento en fase presintomática y la identificación precoz de las descompensaciones agudas, lo cual ha contribuido al descenso de las mismas y a una clara reducción de mortalidad. Hay niños ya diagnosticados por cribado que pueden necesitar ingreso por descompensación y otros sin posibilidad de cribado que pueden requerir ingreso por debut (AU)

Introduction. Amino acid disorders are hereditary metabolic diseases (HMD) that may cause serious consequences, even death, without diagnosis or early treatment. The introduction of the neonatal screening program using tandem mass spectrometry (MS/MS) aims to improve the prognosis. This study has aimed to compare the clinical course of patients diagnosed of amino acid disorders in the clinical phase versus the results of neonatal screening. Material and methods. Retrospective descriptive study of patients diagnosed of metabolic disorders between January 2002 and June 2015. The extended screening of EIM by MS/ MS has been used in our center since April 2010. Results. A total of 245 cases of HMD has been diagnosed in our unit during these 13 years. Grouped by conditions: 152 protein metabolism disorders, 27 carbohydrate metabolism disorders, 33 lipid metabolism disorders, 12 lysosomal diseases, 2 peroxisomal diseases, 4 protein glycosylation congenital defects, 10 cases of Wilson disease and 5 alpha-1 antitrypsin deficiency. Nineteen out of the entire series were of origin Maghreb (7.7%) and 52% were women. Of the cases initiating in pediatric intensive care, most of the patients required aggressive support, including mechanical ventilation and extracorporeal elimination therapy (7 peritoneal dialysis, 6 continuous venovenous hemofiltration) and vasoactive drugs. Fifteen of all the patients suffered shock data, 6 multiorgan failure, 8 severe neurological insult, 3 coagulopathy, and 3 severe liver failure. Discussion. Acute decompensation of a metabolic disorder, as in other EIM is a metabolic emergency that should be diagnosed and treated early, due to its elevated morbidity- mortality. Initiation of extended screening has achieved treatment in the presymptomatic phase and early identification of acute decompensations, which has contributed to their decrease and to a clear reduction of mortality. There are children who have already been diagnosed by screening that may need hospitalization due to decompensations and others without possibility of screening that may require admission due to debut (AU)

Incidence of hepatic artery variations in liver transplantation: does it really influence short- and long-term results?

BACKGROUND: Some variations of hepatic artery, which show 30% incidence, must be taken into account to avoid damage to the liver transplant during harvesting, we analyzed the incidence of variations and their influence on postoperative results. PATIENTS AND METHODS: We performed a retrospective study of 325 liver transplantation between 2001 and December 2011. RESULTS: Variations in the hepatic artery were detected in 91 transplantations (32%) including 29 donors (8.9%), 57 recipients (17.5%), and 5 both (1.5%). The main variation among donors was a right hepatic artery originating from the mesenteric artery (38.2%), and a left hepatic artery from the left gastric artery (35.3%). Recipients showed the same distribution: RHA-UMA (right hepatic artery from upper mesenteric artery) (38.7%) and LHA-LGA (left hepatic artery from left gastric artery) (12.9%). 48.5% of donor hepatic variations did not need bench reconstruction, but all RHA-UMA required it mainly due to the donor gastroduodenal artery (7; 58%) We did not observe significant difference in cold or warm ischemia time, surgical time, red blood cell requirement, postoperative mortality, or overall survival when there was or was not an arterial anomaly. But arterial complications were more frequent in cases where there were recipient anomalies or both versus without anomalies or with donor anomalies (20%, 7,8%, 0%, 5,6%; P = .06). Donor RHA-UMA was associated with worse overall survival (69, 2%; P = .07) and longer cold ischemia time and red blood requirement. Bench reconstruction held to longer cold ischemia time and blood cell requirements (P = .01) and shorter overall survival (82.4%). RHA-UMA was associated (P = .08) with worse actuarial survival and a needed for bench reconstruction (P = .01). CONCLUSION: One must be careful during liver harvest to detect hepatic artery variations to avoid damage. Hepatic artery anomalies do not influence liver transplant results except for the presence of an RHA from the UMA with a need for bench reconstruction.

Transplantation for acute liver failure: report of results in the region of Castilla y Leon (Spain) after 10 years of activity.

Acute liver failure is an uncommon disease but its overall mortality rate is still high without liver transplantation, which is the treatment of choice for patients achieving certain criteria. We have reported herein the experience and retrospectively analyzed results of liver transplantation for acute liver failure since the beginning of activity of our group, which is the only one in the region of "Castilla y Leon" (Spain). In 10 years, 14 patients underwent emergency transplantation among an overall series of 325 subjects. The patients were generally young men and women; the average wait list time was 2.14 days. The most common etiology was toxic exposure (no cases were related to acetaminophen overdose), followed by viral infection (all because of acute hepatitis B). Our posttransplant outcomes were: perioperative mortality, 0%; posttransplant in-hospital mortality, 14%; and 1-y, 3-y, and 5-year survival rates of 77.1%, 64.3%, and 64.3% respectively. Retransplantation rate was 7%. A major morbidity occurred in four patients: one primary dysfunction, one hyperacute rejection due to ABO blood group-incompatibility requiring retransplantation, two arterial complications, and two biliary leakages. Our outcomes of emergency transplantation were similar to those reported by both the European and Spanish Liver Transplantation Registries, despite the small number of patients.

Incidence, management, and results of vascular complications after liver transplantation.

INTRODUCTION: Vascular complications show an 8%-15% incidence after liver transplantation and represent an important cause of mortality. An aggressive policy is necessary for an early diagnosis and treatment. PATIENTS AND METHODS: From 2001 to 2009, we performed 240 liver transplantations in 232 patients. We employed Doppler ultrasonography on days 1 and 4 as well as before hospital discharge and always try a radiological approach. RESULTS: The incidence of vascular complications was 7.2% (n = 18) including arterial (n = 12, 4.8%) of early thrombosis (n = 4), late thrombosis (n = 4), and stenosis (n = 4) or portal (n = 3; 1.2%) of thrombosis (n = 2) or stenosis (n = 1); or caval complications (n = 3, 1.2%). Radiologic therapy was effective in 1 patient with arterial stenosis, in the 3 patients with portal complications, and in 2 patients with caval complications. All patients with early thrombosis and 2/4 with late thrombosis required retransplantation. Surgical treatment was effective in 1 patient with late thrombosis, 3 with stenosis, and 2 with caval complications. The overall mortality rate was 16.6%; 2 patients with arterial complications and 1 with a caval complications. CONCLUSION: Vascular complications, mainly artery complications, represent serious problem after liver transplantation, which often requires retransplantation. With an aggressive policy of diagnosis and treatment, we can decrease the mortality rate from these adverse events.