P007 Experience of using intestinal current measurement (ICM) in Russia

Not always patients with cystic fibrosis (CF) have clinical manifestations characteristic of the disease, which is determined by patient’s genotype. A special role in diagnosis occupied ICM borderline sweat test values and rare genetic variants. Objective: To evaluate use practice. Materials methods: was carried out according to European SOP. 104 people were examined: 18 healthy (control group), 60 CF (variants different classes), variants not previously described, 26 suspected CF. Results: We examined (carriers CFTR variant 1, atypical presentation), these, withdrawn 23 patients, 3 confirmed. For first time, (not available international databases) described - 18: c.1766+2T>C, 2789+5G>A, D806G, G1047S, T1036N, 3321delG, 712–1G>T, c.1584+18672A>G, G509D, c.1513A>C, p.2617G>T, c.1329_1350del, c.831G>A, c.1083G>A, D579Y, p.Asn505His, E403D other. The function ion channels studied invariants typical for RF: E92K – 9, W1282R 3, N1303K 2, R334W 3272–16T>A carriers complex alleles: F508del;L467F (5 patients) S466X;R1070Q patients). It found that “mild” genotypes, chloride channel decreases age (from 4 10 years old 15.5 (13.5; 16.5) µA/cm2 from 11 7.0 (5.0;8.5) adults 8.0 (7.0;14.0) (Me(Q1;Q3)), p = 0.017). There no effect on ivacaftor-lumacaftor F508del;L467F/F508del S466X;R1070Q/CFTRdele2.3 genotypes. Conclusions: method helps clinicians establish or exclude CF, especially cases newly identified gene, effectiveness modulator therapy, understand age-related changes function.