Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment.

Aim: To study the relationship between the genotype and the phenotype in the patients with Hermansky - Pudlak syndrome (HPS) associated with granulomatous colitis; to monitor clinical course of the disease for adequate treatment, cancer surveillance and genetic counseling.

Materials And Methods: The diagnosis of HPS is established by physical examination, chest X-ray, computed tomography, endoscopic examination with biopsy, and laboratory tests, including histology, baseline laboratory blood, urine and feces tests, determination of ASCA-C and ANCA antibodies using an ELISA. Molecular genetic testing for HPS gene mutations, R702W, G908R, L1007fs and P268S mutations in NOD2 gene, and TaqI variant of the VDR gene were carried out.

[Features of microbiocenosis of colon in tumoral processes].

Microbiocenoses of 47 patients with tumor processes of colon and 18 persons of control group have been researched. The increase, in comparison with control of inoculation frequency of hemolytic Escherichia and Escherichia with lowered biochemical activity, partial replacement of the resident microflora on commensal microorganisms is registered. Isolation of opportunistic Enterobacteria (genus Citrobacter and Klebsiella) was observed more often.