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 本研究报道1例阿拉基尔综合征（Alagille Syndrome, AS）患者，其壳三糖酶（chitotriosidase, ChT）水平升高，并对可阐释AS与ChT水平升高之间关联的潜在影响因素进行分析。该患者为男性，表现为胆汁淤积性黄疸、面部畸形及先天性心脏病，曾出现短暂性败血症。患者接受了肝活检及先天性代谢缺陷相关检测，检测结果分别提示胆管减少症与ChT水平升高。该ChT水平升高可通过炎症与感染过程，或阿拉基尔综合征本身得到潜在解释。