RESUMEN
OBJECTIVE: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. MATERIAL AND METHODS: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. RESULTS: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51) and 46 relatives at risk with a mean age of 21.8 years (6-55). Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%). Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05). Gastrointestinal involvement was observed in 30/61 (49%), desmoid tumors in 7/77 (9.1%) and congenital hypertrophy of the retinal pigment epithelium in 23/55 (65.7%). 86.7% of patients with this alteration showed mutations between codons 454 and 1019, with a statistically significant correlation ((p < 0.05). CONCLUSIONS: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic-genotypic correlation with statistical significance.
Asunto(s)
Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/epidemiología , Adolescente , Adulto , Niño , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/genética , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Sistema de Registros , España , Adulto JovenRESUMEN
Endoscopic biliary drainage through endoscopic retrograde cholangiopancreatography (ERCP) is a widely accepted therapeutic option in malignant biliary obstructions. However, the procedure is not free of complications. Perforation is one possible complication although it is much less frequent (less than 1%) than pancreatitis (5.4%) or hemorrhage (2%). We present 2 cases of duodenal perforation after placement of a biliary prosthesis through ERCP. Both patients had extensive hilar cholangiocarcinoma. Onset of symptoms of perforation occurred a few hours after placement of the prosthesis and the diagnosis was confirmed by computed tomography and laparotomy. We believe that the mechanism through which perforation occurred was proximal adhesion of the prosthesis to the tumor. This increased the intensity of distal trauma produced by the intraduodenal segment, preventing adaptation of the prosthesis to intestinal peristalsis. A good preventive measure would consist of correctly adjusting the length of the prosthesis in relation to the proximal end of the biliary stenosis.
Asunto(s)
Neoplasias de los Conductos Biliares/cirugía , Colangiocarcinoma/cirugía , Colangiopancreatografia Retrógrada Endoscópica/efectos adversos , Enfermedades Duodenales/etiología , Perforación Intestinal/etiología , Stents/efectos adversos , Anciano , Femenino , Humanos , Persona de Mediana EdadRESUMEN
The aim of this study was to know if endoscopic sphincterectomy could be an alternative to cholecystectomy in high surgical risk patients that have suffered acute biliary pancreatitis. Between January 1992 to December 1995 endoscopic sphincterectomy was carried out in 52 high surgical risk patients who had suffered an episode of acute biliary pancreatitis. The lithiasic gallbladder was not removed. The mean age was 75.6 years (35-91). After a follow up of 15.9 months (1-46.5), no patient suffered from a new episode of acute pancreatitis. Six patients (12%) required cholecystectomy due to complications derived from the lithiasic gallbladder. Endoscopic sphincterectomy is an effective alternative to cholecystectomy in the prevention of new episodes of acute biliary pancreatitis in patients with lithiasic gallbladder and high surgical risk. The complications of the lithiasic gallbladder in situ after endoscopic sphincterectomy are relatively infrequent.