Increased levels of chitotriosidase in a patient with Alagille syndrome: association or coincidence?

ABSTRACT We describe a case of a patient with Alagille syndrome (AS) presenting an increased level of the enzyme chitotriosidase (ChT), evaluating factors that could justify the relationship between AS and ChT. He was a male patient with cholestatic jaundice, facial dysmorphia and congenital heart disease who presented a brief septicemia. He underwent liver biopsy and analyses for inborn errors of metabolism that respectively showed ductopenia and increased levels of ChT. This increase could be potentially explained by inflammatory and infectious processes, or even by AS itself.

摘要 本文报道1例合并壳三糖苷酶（chitotriosidase, ChT）水平升高的阿拉基综合征（Alagille Syndrome, AS）病例，并探讨可解释AS与ChT水平升高之间关联的潜在影响因素。该患者为男性，表现为胆汁淤积性黄疸（cholestatic jaundice）、面部畸形（facial dysmorphia）及先天性心脏病（congenital heart disease），曾出现一过性败血症（septicemia）。患者接受了肝活检（liver biopsy）及先天性代谢缺陷（inborn errors of metabolism）相关检测，结果分别显示胆管减少症（ductopenia）及ChT水平升高。该酶水平升高可通过炎症与感染过程解释，亦可能与AS本身相关。