Coexistencia de anticuerpos anti-histidil-tRNA-sintetasa y anti-partícula de reconocimiento de la señal en un paciente con polimiositis / Coexistence of anti-Jo1 and anti-signal recognition particle antibodies in a polymyositis patient

Las miopatías inflamatorias idiopáticas son un grupo heterogéneo de miopatías potencialmente tratables. Se clasifican en 4 subtipos: dermatomiositis, polimiositis, miositis autoinmune necrosante y miositis por cuerpos de inclusión, en función de las características clínicas e histológicas. Los anticuerpos asociados a miositis y los autoanticuerpos específicos de miositis se encuentran frecuentemente en pacientes con miopatías inflamatorias, siendo útiles en el diagnóstico y clasificación. El anticuerpo anti-histidil tRNA sintetasa es el más prevalente y el más específico para polimiositis. El anticuerpo de partícula de reconocimiento de señal es también un autoanticuerpo especıfico para polimiositis, pero más infrecuente, y raramente se encuentra en pacientes que presentan otros autoanticuerpos específicos para miositis. En este trabajo se presenta un paciente con polimiositis en el que coexisten los 2 autoanticuerpos en el suero, lo que se considera una situación clínica extremadamente rara. Aquí analizamos la evolución clínica y hallazgos para examinar el efecto de la coexistencia y la posible interacción sobre el pronóstico

Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis. Signal recognition particle antibody is also a specific autoantibody for polymyositis, but it is infrequent and rarely found in patients having other myositis-specific autoantibodies. We present a man with polymyositis who had both antibodies in serum, which is considered an extremely rare clinical situation. Here we analyze the clinical course and findings, and examine the effect of the coexistence and possible interaction on prognosis

Coexistence of anti-Jo1 and anti-signal recognition particle antibodies in a polymyositis patient. / Coexistencia de anticuerpos anti-histidil-tRNA-sintetasa y anti-partícula de reconocimiento de la señal en un paciente con polimiositis.

Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis. Signal recognition particle antibody is also a specific autoantibody for polymyositis, but it is infrequent and rarely found in patients having other myositis-specific autoantibodies. We present a man with polymyositis who had both antibodies in serum, which is considered an extremely rare clinical situation. Here we analyze the clinical course and findings, and examine the effect of the coexistence and possible interaction on prognosis.

Protocolo de estudio bioquímico de hipercolesterolemia familiar en un niño de 6 años / Biochemistry study protocol of familial hypercholesterolaemia in a 6 year-old child

La hipercolesterolemia familiar (HF) es una de las enfermedades hereditarias más frecuentes, afectando a unas 10 millones de personas en todo el mundo. Se caracteriza por niveles elevados de c-LDL y por una elevada prevalencia de enfermedad cardiovascular prematura. La HF se origina por mutaciones en el gen que codifica el receptor de c-LDL. Presentamos el caso de un niño de 6 años que es remitido al laboratorio de Riesgo Cardiovascular (RCV) por sospecha de hipercolesterolemia familiar. Se le realiza una bioquímica general y un perfil de RCV, donde se observa un colesterol total y un c-LDL elevado, con el resto de los parámetros dentro de los rangos de normalidad. Se procede a la confirmación de la HF heterocigota mediante la determinación de la mutación del receptor de c-LDL (Lipochip(R)) mediante análisis genético (AU)

Familial hypercholesterolaemia (FH) is one of the most common hereditary diseases, affecting about 10 million people around the world. It is characterised by high levels of c-LDL, and a high prevalence of premature cardiovascular disease. It is caused by mutations in the gene that encodes the c-LDL receptor. We present the case of a 6 year-old child who was referred to the Cardiovascular Risk (CRV) Laboratory due to suspicion of familial hypercholesterolaemia. General biochemistry analysis and a CRV profile were performed, showing a high total cholesterol and c-LDL. As the rest of parameters were within the normal ranges, secondary causes of hypercholesterolaemia, such as hypothyroidism and diabetes, were ruled out. The presence of the FH heterozygote was confirmed by determining the mutation of the c-LDL receptor mutation by gene analysis (Lipochip (R)) (AU)