Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test. / Susceptibilidad genética del síndrome de Gilbert en población valenciana; eficiencia del test de ayuno.

OBJECTIVE: To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population. PATIENTS AND METHODS: We studied the prevalence of the genotypes (TA)6/6 (TA)6/7 and (TA)7/7 of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients. By analysing the genomic region of the TATA box of the UGT1A1 gene promotor using Sanger sequencing, we established the correlation between the rs8175347 genotypes and the fasting test results and with the patients' biochemical disorders. RESULTS: The rate of heterozygosity of allele (TA)7 in the control population was 32% and increased to 87.59% among the patients with suspected GS. The rate of genotype TA7/7 was 81.94% among the patients with hyperbilirubinemia, compared with 11.33% in the control patients. The fasting test showed a 15.79% rate of false negatives and a 5.26% rate of false positives. CONCLUSIONS: The high frequency of allele (TA)7 among the Valencian control population, almost double the 5% reported for European control patients, confirms the high rate of GS reported in the Spanish population, without observing significant differences between the geographical ends of the country. The efficacy and reliability of the fasting test for the diagnosis of GS is questionable.

Anestesia en un paciente con Síndrome de Gilbert: a propósito de un casoANESTESIA EN UN PACIENTE CON SÍNDROME DE GILBERT: A PROPÓSITO DE UN CASO / Anesthesia in a patient with Gilbert's syndrome: a case report

El síndrome de Gilbert es una enfermedad benigna y hereditaria causada por la deficiencia relativa de la enzima glucuronil transferasa que es la causa más común de hiperbilirrubinemia congénita y que manifiesta clínicamente con ictericia, que puede aparecer antes, durante o después de la anestesia. Presentamos el manejo anestésico del caso de un paciente joven con síndrome de Gilbert que fue intervenido de amigdalectomía bajo anestesia general. Los fármacos y medicamentos anestésicos que utilizan esta enzima para su metabolismo o excreción deben ser evitados para minimizar el estrés hepático durante el período perioperatorio y permitir una conducción segura de la anestesia y evitar la icteria en estos pacientes.

Gilbert syndrome is a benign and hereditary disease caused by the relative deficiency of the enzyme glucuronyl transferase which is the most common cause of congenital hyperbilirubinemia and which manifests clinically with jaundice, which may appear before, during or after anesthesia. We present the anesthetic management of the case of a young patient with Gilbert's syndrome who underwent laparoscopic cholecystectomy under general anesthesia. Anesthetic drugs and drugs that use this enzyme for its metabolism or excretion should be avoided to minimize hepatic stress during the perioperative period and allow safe conduction of anesthesia and avoid jaundice in these patients.

Pruebas de laboratorio en el síndrome de Gilbert consecutivo a hepatitis / Laboratory tests in Gilbert's syndrome subsequent to hepatitis

Se efectuó un estudio descriptivo y transversal de 40 pacientes con síndrome de Gilbert consecutivo a hepatitis viral aguda, admitidos en el Servicio de Medicina Interna del Hospital Provincial Docente Clinicoquirúrgico Saturnino Lora Torres de Santiago de Cuba o en la consulta especializada de Hepatología del Policlínico de Especialidades de esta institución, desde junio del 2011 hasta igual mes del 2012, a fin de determinar las características clínico humorales y la respuesta al tratamiento médico en estos. En la casuística se evaluaron las medias, medianas y desviaciones estándares, y entre los resultados se observaron una mayor representación de los hombres menores de 36 años (90,0 por ciento del total), así como un predominio de las manifestaciones de somnolencia, seguida de la astenia, ictericia leve y ausencia de síntomas; asimismo, se confirmó la elevación de la bilirrubina indirecta y su posterior disminución al aplicar la terapia con un inductor enzimático, en este caso el fenobarbital, con el cual se obtuvo, finalmente, mejoría clínica y humoral de los afectados

A descriptive and cross-sectional study was carried out in 40 patients with Gilbert's syndrome subsequent to viral hepatitis, admitted to the Internal Medicine Department of Saturnino Lora Torres Provincial Clinical Surgical Teaching Hospital of Santiago de Cuba or to the specialized hepatology service of the Polyclinic of Specialties in this institution, from June 2011 to the same month of 2012, to determine the clinical and humoral characteristics and the response to medical treatment in them. Means, medians and standard deviations were evaluated in the case material, and among the results was a greater representation of males younger than 36 years (90.0 percent of the total), and a prevalence of manifestations of drowsiness, followed by sleepiness, mild jaundice and absence of symptoms was observed. Also, the elevation of indirect bilirrubin and its subsequent reduction when applying therapy with an enzyme inducer, phenobarbital in this case, were confirmed, eventually obtaining clinical and humoral improvement of patients

Pruebas de laboratorio en el síndrome de Gilbert consecutivo a hepatitis / Laboratory tests in Gilbert's syndrome subsequent to hepatitis

Se efectuó un estudio descriptivo y transversal de 40 pacientes con síndrome de Gilbert consecutivo a hepatitis viral aguda, admitidos en el Servicio de Medicina Interna del Hospital Provincial Docente Clinicoquirúrgico Saturnino Lora Torres de Santiago de Cuba o en la consulta especializada de Hepatología del Policlínico de Especialidades de esta institución, desde junio del 2011 hasta igual mes del 2012, a fin de determinar las características clínico humorales y la respuesta al tratamiento médico en estos. En la casuística se evaluaron las medias, medianas y desviaciones estándares, y entre los resultados se observaron una mayor representación de los hombres menores de 36 años (90,0 por ciento del total), así como un predominio de las manifestaciones de somnolencia, seguida de la astenia, ictericia leve y ausencia de síntomas; asimismo, se confirmó la elevación de la bilirrubina indirecta y su posterior disminución al aplicar la terapia con un inductor enzimático, en este caso el fenobarbital, con el cual se obtuvo, finalmente, mejoría clínica y humoral de los afectados(AU)

A descriptive and cross-sectional study was carried out in 40 patients with Gilbert's syndrome subsequent to viral hepatitis, admitted to the Internal Medicine Department of Saturnino Lora Torres Provincial Clinical Surgical Teaching Hospital of Santiago de Cuba or to the specialized hepatology service of the Polyclinic of Specialties in this institution, from June 2011 to the same month of 2012, to determine the clinical and humoral characteristics and the response to medical treatment in them. Means, medians and standard deviations were evaluated in the case material, and among the results was a greater representation of males younger than 36 years (90.0 percent of the total), and a prevalence of manifestations of drowsiness, followed by sleepiness, mild jaundice and absence of symptoms was observed. Also, the elevation of indirect bilirrubin and its subsequent reduction when applying therapy with an enzyme inducer, phenobarbital in this case, were confirmed, eventually obtaining clinical and humoral improvement of patients(AU)

Wayward effect of polymorphism (TA)8 in the promoter region of UGT1A1 gene in a Mexican family / Efecto caprichoso del polimorfismo (TA)8 en la región del promotor del gene UGT1A1 en una familia mexicana

Gilbert syndrome (GS) is a hereditary relatively common benign unconjugated hyperbilirubinaemia. The promoter region of uridine diphosphate glycosyltransferase 1 (UGT1A1) gene contains a normal A(TA)6 TAA element; variations in this motif (A(TA)7/8 TAA) are generally associated with this disorder. This is a report of the varied effects of GS in a Mexican Mestizo family with a non-common (TA)8 repeat in this population. T he proposita and her mother showed (TA)7 /(TA)8 genotype, while her father and sister were (TA)6 /(TA)7 , but only the proposita showed clinical manifestations. This report supports that the (TA)7 and (TA)8 are necessary, but not enough to explain the features of GS. There are probably additional genetic variations ie, the presence of "modifier" genes or one can speculate that an oligogenetic trait can contribute to the expression of the final phenotype.

El síndrome de Gilberto (SG) es un hiperbilirubinemia no conjugada, benigna, relativamente común y hereditaria. La región promotora del gen (UGT1A1) de la uridina difosfato glicosiltransferasa 1, contiene un elemento normal A (TA)6 TAA. Las variaciones en este motivo (A (TA)7/8 TAA) se encuentran por lo general asociadas con este desorden. Éste es un reporte de los variados efectos del SG en una familia mestiza mexicana con una repetición (TA)8 no común en esta población. La probando y su madre mostraron el genotipo (TA)7 /(TA)7 , mientras su padre y hermana eran (TA)6 /(TA)7 , pero sólo la probando mostró manifestaciones clínicas. Este informe sostiene que el (TA)7 y (TA)8 son necesarios, pero no suficientes para explicar los rasgos del SG. Probablemente hay variaciones genéticas adicionales, es decir, la presencia de genes "modificadores", o se puede especular que un rasgo oligogenético puede contribuir a la expresión del fenotipo final.