Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco / No disponible

Objetivo: estudiar la frecuencia de las mutaciones en el genHFE (C282Y, H63D, S65C) en un grupo de 54 pacientes conporfiria cutánea tarda (PCT) y en un grupo de controles sanos (donantesde sangre) en Guipúzcoa. También analizar su relación conlos virus de la hepatitis B y C (VHB, VHC), alcohol y otros factoresde riesgo reconocidos.Métodos: el análisis de las mutaciones se hizo mediante PCR.Se compararon las frecuencias alélicas y genotípicas. Se determinaronla probabilidad y el test de Chi cuadrado.Resultados: no encontramos asociación entre C282Y y PCT(5,76 vs. 5% controles). Se observó una alta frecuencia alélica enla mutación H63D en PCT (34,25%), pero sin ser estadísticamentesignificativa (controles 29,31%), debido a la alta prevalencia deesta mutación en la población vasca. La mutación S65C fue menoren PCT que en controles. Encontramos una idéntica presenciade H63D en heterocigosis en ambos grupos (38,8 vs. 38,8%).La asociación con el VHC se objetivó en el 35,18% de los pacientesy la infección por VHB en el 7,4%. Un 55,55% de los pacientestenía un hábito alcohólico de más de 60 g etanol día. Todoseran negativos para el virus de la inmunodeficiencia humana (VIH)y 1 de las 5 mujeres con PCT tomaba estrógenos.Conclusión: las mutaciones C282Y y H63D no tienen un papelrelevante en los pacientes con PCT en Guipúzcoa. Los factoresexternos (consumo importante de alcohol y VHC) parecen jugarun papel fundamental en el desarrollo de la PCT en nuestrapoblación

Aim: to study the frequency of HFE gene mutations (C282Y,H63D, S65C) in a group of 54 sporadic PCT patients and in agroup of healthy controls (blood donors) from Guipúzcoa, Spain.We studied the association of PCT with HCV, HBV, alcohol abuse,and other established risk factors.Methods: the analysis of mutations was made by PCR. Allelicand genotypic frequencies were compared. Probability was determinedand a Chi-squared test was performed.Results: no association was observed between C282Y mutationand PCT (5.76 vs. 5% in controls). A high H63D mutationfrequency was observed in PCT (34.25%) but was not statisticallysignificant (controls 29.31%) because of the high prevalence ofthis mutation in the Basque general population. The S65C mutationwas lower in PCT than in controls. There is a similar presencefor H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV associationwas observed in 35.18% of patients with PCT. HBVinfected 7.4% of patients. Heavy alcohol intake (> 60 g/day) waspresent in 55.55% of patients. No HIV-infected patients were detected.The study of other risk factors revealed only one of the fivewomen with PCT taking estrogens.Conclusion: our results found no relevant role for C282Yand H63D mutations. External factors such as HCV and alcoholcould be determinant in the development of PCT in the Basquepopulation

[Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain]. / Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco.

AIM: To study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors. METHODS: The analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed. RESULTS: No association was observed between C282Y mutation and PCT (5.76 vs. 5% in controls). A high H63D mutation frequency was observed in PCT (34.25%) but was not statistically significant (controls 29.31%) because of the high prevalence of this mutation in the Basque general population. The S65C mutation was lower in PCT than in controls. There is a similar presence for H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV association was observed in 35.18% of patients with PCT. HBV infected 7.4% of patients. Heavy alcohol intake (> 60 g/day) was present in 55.55% of patients. No HIV-infected patients were detected. The study of other risk factors revealed only one of the five women with PCT taking estrogens. CONCLUSION: Our results found no relevant role for C282Y and H63D mutations. External factors such as HCV and alcohol could be determinant in the development of PCT in the Basque population.

Prevalecencia de enfermedad celíaca en la hipertransaminasemia crónica de causa no conocida / Prevalence of coeliac disease in unexplained chronic hypertransaminasemia

Objetivo: determinar la prevalencia de celiaquía en la hipertransaminasemia crónica de causa desconocida de nuestro medio. Pacientes y métodos: estudio transversal en 147 pacientes consecutivos con hipertransaminasemia crónica a los que previamente se había descartado etiología alcohólica, medicamentosa, vírica B, C y delta, autoinmune, cirrosis biliar primaria, hemocromatosis, déficit de alfa1 antitripsina, enfermedad de Wilson, hígado congestivo y drogadicción. Se determinaron anticuerpos antiendomisio y antigliadina de tipo Ig A a todos los pacientes. La biopsia intestinal se realizó en los casos positivos para uno o ambos anticuerpos y en aquellos casos en los que la sospecha clínica lo aconsejaba, a pesar de la negatividad de ambos anticuerpos. Resultados: se detectó un caso con anticuerpos antiendomisio y antigliadina positivos y tres con positividad exclusivamente para los antigliadina. La biopsia intestinal fue normal en dos de estos casos y patológica en los otros dos, con atrofia villosa total en uno y subtotal en el otro. Conclusiones: 1. La prevalencia de celiaquía en la población con hipertransaminasemia crónica de causa no conocida de nuestro medio es de 1,4 por ciento.2. Dada la baja prevalencia en nuestro medio, el cribado de celiaquía en la población con hipertransaminasemia crónica, debería ocupar un segundo lugar y realizarse de forma simultánea con el resto de causas poco comunes (AU)

Prevalence of coeliac disease in unexplained chronic hypertransaminasemia.

OBJECTIVE: To determine the prevalence of coeliac disease amongst the population with unexplained chronic hypertransaminasemia in our region. PATIENTS AND METHODS: A prospective study was carried out on 147 consecutive patients with chronic hypertransaminasemia, having previously discarded alcoholic cause, hepatotoxic drugs, B, C and Delta viral infections, autoimmune hepatitis, primary biliary cirrhosis, Jemochromatosis, alfal-antitrypsin deficiency, Wilson's disease, congestive liver and illicit drug use. Serum Ig A to gliadin and endomysium antibodies were determined. Intestinal biopsy was carried out in cases those positive for one or both antibodies. RESULTS: One patient was positive for both IgA to gliadin and to endonisyum antibodies, whereas another three patients were positive to IgA to gliadin only. A duodenal biopsy proved normal in two, a total villous atrophy in one and subtotal atrophy in other. CONCLUSIONS: 1. The prevalence of coeliac disease amongst the population with unexplained chronic hypertransaminasemia in our region is 1.4%. 2. In our region, screening for coeliac disease in unexplained chronic hypransaminasemia should take a secondary place.

Adult celiac disease and hypertransaminasemia.

OBJECTIVE: to determine the incidence of hypertransaminasemia in adult patients with celiac disease with or without relevant chronic liver disease, and to evaluate the response after a gluten-free diet. PATIENTS AND METHODS: retrospective study of 20 cases of adult celiac disease (> 14 years old at diagnosis). Patients were included in the study if they fulfilled the revised EPSGAN criteria. If laboratory tests of liver function revealed alterations, hepatitis B and C viral serology, thyroid hormones, and use of alcohol and drugs were investigated, and liver ultrasound scans were done. Liver biopsy and endoscopic retrograde cholangiopancreatography were done only in patients for whom these studies were considered necessary. RESULTS: ten patients had hypertransaminasemia (50%), ascribed to benzodiazepine use in 1 patient, chronic HCV hepatitis in 1, and celiac disease in 8. In all of these last patients except 1 (benzodiazepine use), laboratory values returned to normal after 4-10 months on a gluten-free diet. CONCLUSIONS: celiac disease was frequently associated with hypertransaminasemia. In most patients transaminase levels returned to normal within 1 year after dietary gluten intake was restricted. If alterations in laboratory values persist, other causes that may be related (e.g., autoimmunity or tumors) or unrelated to celiac disease (e.g., virus) must be ruled out.

Enfermedad celíaca del adulto e hipertransaminasemia / Adult celiac disease and hypertransaminasemia

OBJETIVO: determinar la incidencia de hipertransaminasemia con hepatopatía crónica relevante o no en la celiaquía del adulto y la respuesta a la restricción del gluten. PACIENTES Y MÉTODO: estudio retrospectivo de 20 casos de celiaquía del adulto (> 14 años al diagnóstico). Incluyéndose en el estudio los casos que cumplen los criterios revisados de la ESPGAN. Se realizó analítica hepática y en caso de alteración; serología Vírica B y C, -hormonas tiro¡deas, exclusión de tóxicos (alcohol y fármacos) y ecografía hepática a todos los pacientes. Biopsia hepática y colangiografía retrógrada endoscópica únicamente en los casos que se -cree indicado. RESULTADOS: se detectan diez casos (50 por ciento) de hipertransarninasemia; un caso por benzodiacepinas; otro por hepatitis crónica por el virus C de la hepatitis; ocho casos secundarios a la celiaquía, de los cuales en siete (77,7 por ciento, excluido el caso por benzodiacepinas) se normaliza la analítica en un plazo de 4-10 meses de dieta sin gluten. CONCLUSIONES: 1) La asociación celiaquía e hipertransaminasemia es un fenómeno muy frecuente. 2) En la mayoría de los casos hay normalización tras restricción del gluten de la dieta en un periodo menor de un año. 3) En el caso de persistencia de alteración analítica hay que descartar otras causas independientes de la celiaquía (virus...) o relacionadas con ella (autoinmunidad, tumor..) (AU)

Daily and weekly smoking habits: a Box-Jenkins analysis.

The objective of this research was to ascertain if there are different temporal patterns of smoking. The method of data collection was to use voluntary subject smokers who recorded their daily cigarette consumption for 84 days. Subjects had smoked more than 5 cigarettes per day throughout the previous year; 29 subjects kept accurate autorecords. The daily smoking data of each subject were analyzed via the time-series procedure ARIMA(p,d,q)(P,D,Q)s of Box and Jenkins. 15 subjects (52%) showed simple autoregressive smoking models for which smoking on any given day was a function of the number of cigarettes smoked on the previous day or days, but 13 subjects (45%) showed autoregressive models of weekly seasonality, i.e., the number of cigarettes smoked on any given day is a function of the number smoked on the same day of the previous week, and only 1 subject's data (3%) had unpredictable smoking patterns.