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https://doi.org/10.14300/mnnc.2020.15037

Genophenotypic relationships in cystic fibrosis on the basis of 2017 national register data

[Cystic fibrosis]
Stanislav Aleksandrovich Krasovsky; Elena Ivanovna Kondratieva; Alexander Vladimirovich Chernyak; Natalia Yuryevna Kashirskaya; Tagui Avetikovna Adyan; Elena Lvovna Amelina; Anna Yuryevna Voronkova; Oksana Grigorievna Zonenko;

The aim of the study was to evaluate the geno-phenotypic relationships in 3096 patients with cystic fibrosis, according to the Russian National Register. The analysis of the influence of «mild» (498 cases) and «severe» genotypes (1765 examined persons) on the course and treatment of cystic fibrosis was carried out. Differences between groups of patients by age, time of diagnosis, anthropometric status, respiratory function, frequency of meconium ileus, diabetes mellitus, liver cirrhosis, volume of therapy were revealed. The presence of a «severe» genotype in a patient with cystic fibrosis is negatively associated with nutritional status, with the likelihood of the digestive system complications and the volume of treatment.

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Keywords: cystic fibrosis, register, genetics