[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.

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.

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.