RESUMEN
No abstract available.
Asunto(s)
Anciano , Humanos , Masculino , Terapia por Acupuntura , ADN/química , Ecocardiografía , Endocarditis/diagnóstico , Imagen por Resonancia Magnética , Reacción en Cadena de la Polimerasa , ARN Ribosómico 16S/genética , Análisis de Secuencia de ADN , Espondilitis/diagnóstico , Streptococcus/genéticaRESUMEN
BACKGROUND: The coexistence of an autoimmune disease and amyotrophic lateral sclerosis (ALS) has led to the hypothesis that immune-mediated pathological mechanisms are overlapping in the two diseases. We report herein a rare coexistence of bullous pemphigoid (BP) in a novel mutation (F45S) of the gene encoding Cu/Zn superoxide dismutase (SOD1) in an ALS patient, and discuss a role for the SOD1 mutation in this unusual overlap. CASE REPORT: A 57-year-old male with familial ALS, including vesicles and tense bullae on erythematous bases, was diagnosed with BP. Direct immunofluorescence revealed deposits of C3 and immunoglobulin G in the basement membrane zone. Direct sequencing of SOD1 in the patient revealed a novel mutation (c.137T>C; F45S). CONCLUSIONS: We report a novel SOD1 mutation in ALS, which was combined with BP. This novel SOD1 mutation could affect the phenotype of a combined autoimmune disease and matrix metalloproteinase-9. There may therefore be common factors linking BP and ALS with the SOD1 mutation.
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Esclerosis Amiotrófica Lateral , Enfermedades Autoinmunes , Autoinmunidad , Membrana Basal , Técnica del Anticuerpo Fluorescente Directa , Inmunoglobulina G , Metaloproteinasa 9 de la Matriz , Penfigoide Ampolloso , Fenotipo , Superóxido Dismutasa , Estimulación Eléctrica Transcutánea del NervioRESUMEN
Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.
Asunto(s)
Humanos , Masculino , Cobre , Cabello , Discapacidad Intelectual , Síndrome del Pelo Ensortijado , Músculo Liso , Óxido Nítrico , Óxido Nítrico Sintasa , Estenosis Pilórica , Estenosis Hipertrófica del Piloro , Relajación , Convulsiones , VómitosRESUMEN
Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.