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https://doi.org/10.14300/mnnc.2020.15048

Polymorphism of clinical manifestations of cystic fibrosis-related diabetes

[Cystic fibrosis]
Elena Ivanovna Kondratieva; Roza Atanesyan; Elena Alexandrovna Vasilyeva; Elena Alexandrovna Boychenko; Leonid Klimov; Svetlana Dolbnya;

Cystic fibrosis (CF) is one of the most common recessive diseases. High incidence combined with high penetrance of the phenotype and the incidence of life-threatening complications requires further study. The search continues for the causes of the phenotypic diversity of patients with CF, caused not only by various CFTR mutations, but also by the role of genetic and environmental modifiers.

One of the most common complications of CF is diabetes mellitus (DM). Impaired glucose tolerance (IGT) occurs in 50–70 % of adult CF patients, and clinically, diabetes mellitus manifests itself in 5–15 % of cases. The role of carbohydrate metabolism disorders in the prognosis and course of CF is demonstrated. The article discusses the clinical cases of cystic fibrosis-associated diabetes (CFAD) in children, features of its manifestation, course and treatment.

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Keywords: genotype, phenotype, cystic fibrosis-related diabetes, life expectancy, insulin therapy