Chitotriosidase deficiency in survivors of Candida sepsis.
The existence of chitotriosidase, a human chitinolytic enzyme, hydrolyzes artificial chitotrioside substrates, but its specific function in humans is unknown. The homologous chitinases have an anti-fungal action in plants. In patients with Gaucher disease, chitotriosidase activity is markedly elevated and is a marker for response to specific treatment. In all populations, 6% of individuals are enzyme deficient but completely healthy. It was hypothesized that chitotriosidase deficient persons may be more vulnerable to fungal infections. Thus, the objective of the study was to ascertain the prevalence of homozygosity for the mutation of chitotriosidase among survivors of Candida sepsis. The prevalence of homozygosity among survivors was similar to that in the normal population. Although the cohort is the largest of its kind, since only survivors were tested, further studies should include all patients with Candida sepsis for comparison of survival rates among deficient versus sufficient individuals, and thereby elucidate if this enzyme has an anti-fungal function in man. Several theories are considered to explain the results.
Masoud
M
M
Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel. gaucher@szmc.org.il
Rudensky
B
B
Elstein
D
D
Zimran
A
A
D000328:Adult; D002177:Candidiasis / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016469:Fungemia / Q000201:enzymology* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D023281:Genomics; D006596:Hexosaminidases / Q000172:deficiency* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007962:Leukocytes; D008297:Male; D015995:Prevalence; D017741:Survivors
D006596:Hexosaminidases; C086400:chitotriosidase