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 d...

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Published inJornal brasileiro de patologia e medicina laboratorial Vol. 54; no. 1; pp. 37 - 39
Main Authors Diniz, Bruna L., Floriani, Maiara A., Ferreira, Maria Angélica T., Gonzales, João Francisco O., Lisboa, Nathan H., Jakimiu, André Ricardo, Ferreira, Janaina Yacy H., Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.
Format Journal Article
LanguageEnglish
Portuguese
Published Sociedade Brasileira de Patologia Clínica; Sociedade Brasileira de Patologia; Sociedade Brasileira de Citopatologia 01.02.2018
Sociedade Brasileira de Patologia Clínica
Subjects
Alagille syndrome
chitinase
cholestasis
inflammation
MEDICAL LABORATORY TECHNOLOGY
MEDICINE, RESEARCH & EXPERIMENTAL
PATHOLOGY
sepsis
chitinase
colestase
sepse
cholestasis
inflammation
Alagille syndrome
quitinase
síndrome de Alagille
inflamação
sepsis
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Summary: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.
ISSN:1676-2444
1678-4774
1678-4774
DOI:10.5935/1676-2444.20180008