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.

[Ehlers-Danlos syndrome associated with acute pancreatitis]. / Síndrome de Ehlers-Danlos asociado a pancreatitis aguda.

Ehlers-Danlos syndrome is an inherited connective tissue disease characterized by articular laxity, hyperelastic skin and tissue fragility. The syndrome is genetically, biochemically and clinically heterogeneous and several well-defined subtypes have been identified. We describe a patient with the type IV variant of this syndrome who developed acute spontaneous pancreatitis.

AIDS-associated cholangiopathy in a series of ten patients.

OBJECTIVE: To present the clinical, biological, radiologic and cholangiographic findings in patients with clinical suspicion of AIDS associated cholangiopathy in our hospital. PATIENTS AND METHODS: We have revised the clinical charts of 10 patients admitted in our hospital from 1991 to 1995. RESULTS: Ultrasonography and/or abdominal CT were carried out on all the patients. Biliary tract dilatation was observed in 11 cases. From the 12 ERCP, biliary tract was fulfilled in 11. In 5 cases papillary stenosis was diagnosed, sclerosing cholangitis in 2, normal biliary tract in 3 and acute cholangitis in one case. Sphincterotomy was done in 5 patients, with clinical improvement. In one case, another sphincterotomy was needed because of reestenosis. CONCLUSIONS: ERCP is very important in the diagnosis of AIDS associated cholangiopathy. Endoscopic sphincterotomy relieves abdominal pain in these patients. Cholangiopathy occurs in very immunocompromised HIV positive patients. Survival is very short.

Treatment of achalasia with botulinum toxin.

UNLABELLED: We studied the efficacy of local injections of botulinum toxin in the treatment of patients with achalasia. Four patients diagnosed of achalasia using manometric, radiologic and endoscopic criteria, were treated with botulinum toxin (80 U) injected directly into lower esophageal sphincter (LES), via a sclerotherapy injector. Response to treatment was assessed by changes in symptom scores and LES pressure. All determinations were repeated after 10, 30, 90, 120 and 180 days of treatment. The patients improved after the initial injection. This improvement was accompanied by improved relaxation of the LES. Two patients relapsed after 30 and 65 days and the other two patients remained symptom-free 5 months after treatment. CONCLUSION: Botulinum toxin is probably a safe and effective alternative for the treatment of achalasia and should be considered in patients in whom pneumatic dilation has failed or who are poor surgical candidates. Long-term evaluation of the safety and efficacy of botulinum toxin in the treatment of achalasia is required.

[Primary herpetic esophageal infection in an immunocompetent patient]. / Primoinfección herpética esofágica en paciente inmunocompetente.

Herpetic esophageal primary infection is not a common event in immunocompetent patients. The case of a 27-year-old immunocompetent woman who developed herpetic esophagitis involving the whole esophagus as a manifestation of primary herpetic infection is presented. The endoscopic appearance initially suggested esophageal candidiasis, which is not an exceptional event.

[Gastrointestinal hemorrhage secondary to heterotopic jejunal pancreas]. / Hemorragia digestiva secundaria a páncreas heterotópico yeyunal.

A case of heterotopic pancreas located in the small intestine is herewith presented. The 19-years male patient had been admitted three times since 1991 for an anemic syndrome secondary to melena. The origin of the hemorrhage was not determined with the studies performed (intestinal transit, opaque enema, esophagogastroscopy, colonoscopy and gammagraphy with technetium 99). On the last admission a vascular lesion low flow was observed on arteriography of the upper mesenteric artery on the mesenteric edge of the proximal jejunum. Following laparotomy a small tumor was found in the jejunum and 5 cm of the intestine including the tumor was resected. The anatomic pathologic results demonstrated a heterotopic pancreas.

[Choledochal obstruction due to Fasciola hepatica (author's transl)]. / Obstrucción del colédoco por Fasciola hepatica.

A 45-year-old woman was admitted in July, 1976 with an acute cholecystitis without jaundice. She had suffered from hepatic colic without fever, jaundice, diarrhea or allergic episodes for the past 8 years. The physical examination only revealed an elective pain on the cystic point. Laboratory data were unremarkable, except for a 12 percent eosinophils. The cholecystogram showed a cholelithiasis. The lithiasis was confirmed during the surgical operation and a fasciolasis was diagnosed after one and 10-12 parasites had been found into the cystic and common bile duct, respectively. A cholecistectomy and choledochoduodenostomy were performed. The patient was treated with 60 mg dehydroemetine during 10 days and 500 mg chloroquine during the other next 10 days. Eggs of Fasciola hepatica were found in the stool culture. The follow-up examinations 3 months and a year after surgery were completely normal. The national literature on this topic is reviewed and the clinical manifestations and therapy of this disease are commented on.