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

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 liga...

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Autores principales:	Rodríguez G,Cristián, Carrión A,Flavio, Marinovic M,María Angélica, Chávez C,Eduardo, Preisler R,Jessica, Pooley B,Francisco, Futatani,Takeshi, Ochs,Hans D
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2003
Materias:	Cholangitis, Sclerosing Gallbladder, neoplasms IgM
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000300009
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spelling	oai:scielo:S0034-988720030003000092004-12-13Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínicoRodríguez G,CristiánCarrión A,FlavioMarinovic M,María AngélicaChávez C,EduardoPreisler R,JessicaPooley B,FranciscoFutatani,TakeshiOchs,Hans D Cholangitis, Sclerosing Gallbladder, neoplasms IgM 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).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.131 n.3 20032003-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000300009es10.4067/S0034-98872003000300009
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cholangitis, Sclerosing Gallbladder, neoplasms IgM
spellingShingle	Cholangitis, Sclerosing Gallbladder, neoplasms IgM Rodríguez G,Cristián Carrión A,Flavio Marinovic M,María Angélica Chávez C,Eduardo Preisler R,Jessica Pooley B,Francisco Futatani,Takeshi Ochs,Hans D Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico
description	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).
author	Rodríguez G,Cristián Carrión A,Flavio Marinovic M,María Angélica Chávez C,Eduardo Preisler R,Jessica Pooley B,Francisco Futatani,Takeshi Ochs,Hans D
author_facet	Rodríguez G,Cristián Carrión A,Flavio Marinovic M,María Angélica Chávez C,Eduardo Preisler R,Jessica Pooley B,Francisco Futatani,Takeshi Ochs,Hans D
author_sort	Rodríguez G,Cristián
title	Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico
title_short	Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico
title_full	Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico
title_fullStr	Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico
title_full_unstemmed	Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico
title_sort	síndrome de hiper-igm asociado a colangitis esclerosante y neoplasia vesicular: caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2003
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000300009
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Síndrome de hiper-IgM asociado a colangitis esclerosante y neoplasia vesicular: Caso clínico

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