[Serological and genetic markers in the diagnosis and follow-up of coeliac disease]. / Marcadores serológicos y genéticos en el diagnóstico y seguimiento de la enfermedad celíaca.

INTRODUCTION: Understanding of celiac disease has changed with the advent of serological markers (antigliadin IgA, anti-endomysial IgA and anti-transglutaminase IgA antibodies) and with the identification of major susceptibility genes (HLA-DQA1*05-DQB1*02). Reports of the efficacy of these diagnostic tests have varied, depending on the methodology used and the population investigated. OBJECTIVES: To determine the clinical utility of genetic and serological markers in the diagnosis of celiac disease, their relationship with histological lesions and their changes during treatment, in order to establish an optimal diagnostic algorithm in our environment. PATIENTS AND METHODS: We performed a retrospective study of 590 patients from the health area of Badajoz referred to the Immunology Laboratory for screening or follow-up of celiac disease. The results of intestinal histology, serological markers (antigliadin IgA, anti-endomysial IgA and anti-transglutaminase IgA antibodies), and genomic typing (HLA-DQA1*05-DQB1*02) were analyzed. RESULTS: The sensitivity and specificity of serological tests were greater than 90 %, with a negative predictive value of 98-100 %. HLA-DQA1*05-DQB1*02 was detected in 97 % of celiac patients, with a very high negative predictive value (99 %). On biopsy, 95 % of the patients with some grade of intestinal lesion were positive for antigliadin and/or anti-endomysial antibodies. CONCLUSION: To avoid missed diagnoses, the diagnostic algorithm of celiac disease should include at least two serological markers (antigliadin antibodies and anti-endomysial and/or anti-transglutaminase antibodies) and IgA quantification. Genomic typing should be carried out if one or more markers are positive or if the subject belongs to any of the risk groups. The physician should decide on the advisability of intestinal biopsy on the basis of the patient's clinical and immunological history.

Marcadores serológicos y genéticos en el diagnóstico y seguimiento de la enfermedad celíaca / Serological and genetic markers in the diagnosis and follow-up of coeliac disease

Introducción: El conocimiento de la enfermedad celíaca ha cambiado con la aparición de marcadores serológicos: anticuerpos antigliadina IgA (AAG), antiendomisio IgA (AAE) y antitransglutaminasa tisular IgA (ATGt-IgA) y con la identificación de genes asociados a la enfermedad: HLA-DQA1*05-DQB1*02. Los estudios de eficacia de estas pruebas diagnósticas varían dependiendo de la metodología utilizada y de la población investigada. Objetivos: Estudiar la rentabilidad clínica de los marcadores genéticos y serológicos, su relación con el grado de lesión intestinal y con el tratamiento de la enfermedad, para así poder establecer el algoritmo diagnóstico de enfermedad celíaca más adecuado en nuestro medio. Pacientes y métodos: Estudio retrospectivo de 590 pacientes del Área Sanitaria de Badajoz remitidos al Laboratorio de Inmunología para el diagnóstico o seguimiento de la enfermedad celíaca. Se analizan los resultados del examen histológico, marcadores serológicos (anticuerpos AAG, AAE y ATGt de isotipo IgA) y tipificación genómica (HLA-DQA1*05-DQB1*02). Resultados La sensibilidad y especificidad de los marcadores serológicos son superiores al 90 %, y el valor predictivo negativo (VPN) es del 98-100 %. El HLA-DQA1*05-DQB1*02 se detecta en el 97 % de los enfermos celíacos, destacando su elevado VPN (99 %). En el momento de la biopsia intestinal, el 95 % de los pacientes con algún grado de atrofia tienen serología positiva (AAG y/o AAE). Conclusión: Para evitar la pérdida de casos, los algoritmos diagnósticos de enfermedad celíaca deben de incluir la determinación de, al menos, dos marcadores serológicos (AAG y AAE y/o ATGt) y la cuantificación de IgA. La tipificación genómica, se realizará si algún marcador es positivo, o por pertenecer a grupos de riesgo. Con los datos clínicos e inmunológicos el gastroenterólogo infantil decidirá en cada caso la realización de la biopsia intestinal

Introduction: Understanding of celiac disease has changed with the advent of serological markers (antigliadin IgA, antiendomysial IgA and antitransglutaminase IgA antibodies) and with the identification of major susceptibility genes (HLA-DQA1*05-DQB1*02). Reports of the efficacy of these diagnostic tests have varied, depending on the methodology used and the population investigated. Objectives: To determine the clinical utility of genetic and serological markers in the diagnosis of celiac disease, their relationship with histological lesions and their changes during treatment, in order to establish an optimal diagnostic algorithm in our environment. Patients and methods: We performed a retrospective study of 590 patients from the health area of Badajoz referred to the Immunology Laboratory for screening or follow-up of celiac disease. The results of intestinal histology, serological markers (antigliadin IgA, antiendomysial IgA and antitransglutaminase IgA antibodies), and genomic typing (HLA-DQA1*05-DQB1*02) were analyzed. Results: The sensitivity and specificity of serological tests were greater than 90 %, with a negative predictive value of 98-100 %. HLA-DQA1*05-DQB1*02 was detected in 97 % of celiac patients, with a very high negative predictive value (99 %). On biopsy, 95 % of the patients with some grade of intestinal lesion were positive for antigliadin and/or antiendomysial antibodies. Conclusion: To avoid missed diagnoses, the diagnostic algorithm of celiac disease should include at least two serological markers (antigliadin antibodies and antiendomysial and/or antitransglutaminase antibodies) and IgA quantification. Genomic typing should be carried out if one or more markers are positive or if the subject belongs to any of the risk groups. The physician should decide on the advisability of intestinal biopsy on the basis of the patient’s clinical and immunological history

Carcinoma de células transicionales vesicales con metástasis en seno maxilar como primer síntoma / Transitional vesical cell carcinoma with maxillary sinus metastasis as first presentation symptom

Las metástasis sinusales son tumores extremadamente raros. Se han descrito unos 50 casos localizados en el seno maxilar. Las más frecuentes son las del adenocarcinoma renal, seguidas de los tumores de mama y pulmón. Hasta la fecha sólo se había descrito un caso a nivel mundial de metástasis en senos paranasales de un carcinoma de vejiga. Presentamos un paciente de 67 años que debutó con una tumoración maxilar derecha de 2 meses de evolución, que mediante PAAF se encontraba que era una neoplasia de células transicionales cuyo origen se demostró en la vejiga urinaria. Se instauró tratamiento con quimioterapia paliativa falleciendo el paciente al poco tiempo. Efectuamos algunas consideraciones sobre los procesos metastáticos en senos paranasales (AU)

Maxillary sinus metastasis are very uncommon tumors (fifty have been reported). The most frequent ones are renal adenocarcinoma, breast and lung tumors. Up to now there is only a reported case of bladder carcinoma in maxillary sinus. We report a 67 years old male with a right maxillary tumor two months ago. FNA demonstrated a transitional cell bladder tumor. The treatment was chemotherapy. The patient died two months later. We reported some considerations about metastatic tumors of paranasal sinus (AU)