Rodríguez Cristián, Carrión Flavio, Marinovic María Angélica, Chávez Eduardo, Preisler Jessica, Pooley Francisco, Futatani Takeshi, Ochs Hans D
Laboratorio de Inmunología, Facultad de Medicina, Universidad de los Andes, San Carlos de Apoquindo 2200, Las Condes, Santiago, Chile.
Rev Med Chil. 2003 Mar;131(3):303-8.
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.
我们报告了一名11岁男性，被诊断为X连锁高IgM综合征，表现为反复感染和硬化性胆管炎，后来发展为胆囊癌。免疫评估显示血清IgG和IgA水平降低，IgM水平升高。对丝裂原激活的外周血单个核细胞上CD40配体表达的研究显示T淋巴细胞上完全没有该标志物。分子分析在患者及其母亲中检测到CD40配体跨膜段第1外显子的一个无义突变。他还出现碱性磷酸酶升高和肝酶轻度升高。肝活检证实存在特发性硬化性胆管炎。患者开始每月接受400mg/kg的静脉注射免疫球蛋白治疗，以及熊去氧胆酸和维生素E治疗，其IgG和IgM水平恢复正常，感染发生率降低，肝功能恢复正常。诊断三年后，我们在胆囊内检测到息肉，活检报告为腺癌。他接受了肝双段切除术（VI B-V）和局部淋巴结清扫术。
