Abstract
Objective: one of frequent mutations in Russia is 3849+10kbC>T mutation.
Aim: to evaluate phenotypic characteristics in adult CF patients - carriers of 3849+10kbC>T mutation.
Materials and methods: a retrospective study of the two groups: group 1 -102 patients - homozygous for F508del, group 2- 33 patients with F508del/3849+10kbC>T genotype. Age, age at diagnosis, sweat chloride levels, lungs infections, spirometry parameters, pancreatic insufficiency (PI), CF related diabetes (CFRD), intestinal obstruction (IO), liver cirrhosis with portal hypertension (LCPH), biological children (for men) were estimated. The comparative analysis between the groups and survival analysis were made. Results are described as mean ± SD/ median (IQR) and Kaplan-Meier survival analysis.
Results: age in the group 1 was 23,8 ± 4,1 years, in the group 2 - 27,4 ± 8,9 years (p=0,001); age at diagnosis: 1,9 (4,5) years vs 14,9 (9,6) years (pT genotype were absent. Two men in the group 2 have biological children. There was no crossing of Kaplan-Meier curves with the median line in both groups, but there was significant difference in the survival (p=0,014).
Conclusion: 3849+10kbC>T mutation is shown to cause «mild» phenotype leading to late diagnosis, absence or late development of pancreatic insufficiency and digestive complications, milder obstructive changes in respiratory function and better survival. Patients with F508del/3849+10kbC>T genotype are characterised by frequent negative or borderline sweat test results; some men with 3849+10kbC>T mutation have biological children.
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