Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico

• Cristián Rodríguez G ^[1] ; Flavio Carrión A ^[1] ; María Angélica Marinovic M ^[2] ; Eduardo Chávez C ^[4] ; Jessica Preisler R ^[1] ; Francisco Pooley B ^[1] ; Takeshi Futatani ^[3] ; Hans D Ochs ^[3]
  1. [1] Universidad de Los Andes

     Universidad de Los Andes

     Colombia

     
  2. [2] Universidad de Chile

     Universidad de Chile

     Santiago, Chile

     
  3. [3] University of Washington

     University of Washington

     Estados Unidos

     
  4. [4] Hospital Clínico San Borja Arriarán Servicio de Pediatría Unidad de Gastroenterología Infantil

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• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 131, Nº. 3, 2003, págs. 303-308
• Idioma: español
• Títulos paralelos:
  • X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder cancer
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• Resumen

  • We report a 11 years old male diagnosed as a X-linked hyper-IgM syndrome that presented with recurrent infections and sclerosing cholangitis and later developed a gallbladder cancer. Immunological evaluation showed decreased levels of serum IgG and IgA with elevated levels of IgM. Study of CD40 ligand expression on mitogen activated peripheral blood mononuclear cells revealed total absence of this marker on T lymphocytes. Molecular analysis detected, in the patient and his mother, a nonsense mutation in exon 1 of the transmembrane segment of the CD40 ligand. He also presented elevation of alkaline phosphatases and mild elevation of liver enzymes. Liver biopsy demonstrated the presence of idiopathic sclerosing cholangitis. The patient was started on monthly IVIG therapy at 400 mg/kg, as well as ursodeoxycholic acid and vitamin E, with normalization of his IgG and IgM levels a decrease in the incidence of infections and normalization of liver function. Three years after diagnosis, we detected the presence of polyps inside the gallbladder that were reported at biopsy as adenocarcinoma. He underwent hepatic bisegmentectomy (VI B-V) and local lymphadenectomy (Rev Méd Chile 2003; 131: 303-8).