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Background: Isoniazid (INH) is one of the most common drug for tuberculosis (TB) treatment and INH acetylation catalysed by non-inducible hepatic enzyme arylamine N-acetyltransferase type 2 (NAT2). The isoniazid acetylation rates, which depends on NAT2 genotypes, is constant in an individual but can changes between patients. Phenotypic groups can be classified based on the genotype: slow, intermediate and rapid acetylators. This study was performed to identify the relation between NAT2 gene polymorphisms and plasma INH concentrations among the different genotypes of Vietnamese tuberculosis patients. Methods: Blood samples of 136 adult TB patients treated with INH were collected and genotyped for NAT2 gene polymorphisms using Sanger sequencing. Two-hour post-dosing INH plasma concentrations were determined by high-performance liquid chromatography/tandem mass spectrometry (HPLC/MS/MS). Results: Among the 136 patients genotyped, there were 43 (31.62%), 58 (42.65%) and 35 (25.74%) of slow, intermediate and rapid acetylation phenotypes with two-hour post dosing INH plasma concentration of 3.4, 2.7 and 2.2 μg/ml, respectively. The differences in INH concentrations among the three genotypes were significant (P

Background: Clinical biochemical parameters were known as important criteria for diagnosis and treatment of nephrotic syndrome (NS). Single nucleotide polymorphism (SNP) rs3738423 (C>T) of NPHS2 gene encoding for podocin protein in globular membrane was proved associated to steroid resistant nephrotic syndrome. This study was to evaluate the relation between rs3738423 (C>T) of NPHS2 gene and biochemical parameters of pediatric NS patients in steroid- sensitive (SSNS), early (ESRNS) and late (LSRNS) steroid-resistant groups. Methods: Blood and urine samples from 149 patients were collected for protein, albumin and proteinuria/creatininuria index analysis; blood samples in EDTA tube were used for NPHS2 gene analysis. Results: The results showed that CC and CT genotypes were mostly abundant in all three groups, whereas TT was minor appeared in only SSNS and LSRNS groups. Patients with the CT genotype in the ESRNS group had a proteinuria/creatininuria index nearly twice as high as those patients with the CC genotypes. Meanwhile, those with CT genotype in the SSNS and LSRNS groups had lower rates than the CC genotype. Conclusion: Clinical biochemical parameters significantly contributed to the diagnosis, monitoring and treatment of pediatric nephrotic syndrome, the changes of these parameters depended on the interaction between the response to corticoid and rs3738423 (C>T) polymorphism of NPHS2 gene in pediatric nephrotic syndrome patients.

Isoniazid (INH) is one of the most common drugs for tuberculosis (TB) treatment and INH acetylation catalyzed by non-inducible hepatic enzyme arylamine N-acetyltransferase type 2 (NAT2). The isoniazid acetylation rates, which depend on NAT2 genotypes, is constant in an individual but can changes between patients. Phenotypic groups can be classified based on the genotype: slow, intermediate, and rapid acetylators. This study was performed to identify the relation between NAT2 gene polymorphisms and plasma INH concentrations among the different genotypes of Vietnamese tuberculosis patients. Blood samples of 136 adult TB patients treated with INH were collected and genotyped for NAT2 gene polymorphisms using Sanger sequencing. Two-hour post-dosing INH plasma concentrations were determined by high-performance liquid chromatography/tandem mass spectrometry (HPLC/MS/MS). Among the 136 patients genotyped, there were 43 (31.62 %), 58 (42.65 %), and 35 (25.74 %) of slow, intermediate, and rapid acetylation phenotypes, with two-hour post dosing INH plasma concentrations of 3.4, 2.7, and 2.2 µg/ml, respectively. The differences in INH concentrations among the three genotypes were significant (P < 0.05). Genotyping of TB patients from Vietnam for NAT2 gene polymorphism revealed that 48 percent of the study population comprised slow acetylators. Two-hour INH levels were significantly different among CC and TT homozygous genotypes of NAT2(C282T), as 2.7 µg/ml and 3.9 µg/ml, respectively. This suggests that NAT2(C282T) could play a role in INH metabolism in TB patients. [ABSTRACT FROM AUTHOR]