Abstract
We explore the impact of CHIT1 gene mutation on clinical, biochemical parameters and response to outcome (remission/failure) of medical treatment in North Indian filarial chyluria (FC) patients. Data of 101 subjects of FC treated medically between March 2013 and April 2016 in whom CHIT1 gene polymorphism was determined were analyzed. Filarial etiology was confirmed by DEC-provocative test, immuno-chromatographic test and IgG/IgM-combo rapid antibody test. CHIT1 gene polymorphism was genotyped by polymerase chain reaction. Of 101 patients (mean age, 36.9±10.28 years; male: female, 3:1.2), 66 experienced remission (Group-A) while 35 experienced relapse or failed to respond (Group-B). A significant association was observed between CHIT1 genotypes and higher grade of disease (p= 0.001). Wild-type, heterozygous and homozygous mutant frequencies of CHIT1 genotypes were 78.6%, 72.5% and 27.8% in remission and 21.4%, 27.5% and 72.2%, in recurrence/failure, respectively. Our results showed that patients with mutant genotype (TT) of CHIT1 gene showed significantly higher rate of recurrence or failure to medical therapy than wild type (HH) genotypes [OR (95% CI) = 9.53 (1.84-49.21), p=0.011]. This preliminary study showed the impact of CHIT1 gene variants on treatment outcome in FC patients. This observation needs to be confirmed using studies with larger numbers of FC patients.
Highlights
Chyluria is the presence of milky-white lymphatic fluid that is rich in protein and dietary lipids in the form of chylomicrons in urine
In our endeavour to look for genetic predictors of response to medical therapy, we evaluated our data to see whether CHIT1 gene plays a role in determining the natural history of Filarial chyluria (FC) and its response to treatment
Our results showed that the patients with mutant genotype had a higher risk of recurrence or failure to medical therapy [OR = 9.53 (1.8449.21), p=0.011]
Summary
Chyluria is the presence of milky-white lymphatic fluid that is rich in protein and dietary lipids in the form of chylomicrons in urine. Chyluria is usually due to thoracic duct obstruction, which arises from a variety of causes, including filariasis, trauma, surgical procedure, tumour and aneurysm [1]. Chyluria occurs in 10% of filarial-affected patients. Filarial chyluria (FC) is frequently reported from Southeast Asia, China, India, Japan, Taiwan, SubSaharan Africa, South and Central America. About one third of infected people live in India. It has been recognized as a neglected tropical disease that is more prevalent in the rural and povertystricken population [2,3]
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