Состояние здоровья близнецов с генотипом F508del/R334W при муковисцидозе и возможности таргетной терапии

Translated title of the contribution: Health status of twins with cystic fibrosis and F508del/R334W genotype: opportunities of targeted therapy

Elena I. Kondratyeva*, Anna Yu Voronkova, Anna S. Efremova, Yulia L. Melyanovskaya, Natalya V. Bulatenko, Tatyana B. Bukharova, Nuriniso D. Odinaeva, Hugo R. de Jonge, Dmitry V. Goldshtein

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

The CFTR gene contains 27 exons and is located at position 31.1 of the long arm of chromosome 7 (7q31.1). More than 2000 variants of the CFTR gene have been described so far. The R334W variant is associated with the mild disease course. Objective. To perform comprehensive assessment of the health status, functional CFTR activity, and efficacy of CFTR modulators in twins with the F508del/R334W genotype. Materials and methods. Data from medical records, intestinal current measurement (ICM), intestinal organoid culture. Results. We examined two twins with moderate cystic fibrosis who had similar clinical manifestations, including rhinosinusitis with nasal polyps and respiratory infections caused by gram-negative bacteria. Both patients also had polyvalent allergy. One child presented with a decrease of pancreatic elastase 1 in stool from 500 µg/g to 125 500 µg/g, which required administration of pancreatin and dosage increase later. Both children had reduced chloride channel function as demonstrated by ICM. The administration of a corrector (VX-809) and a potentiator (VX-770) effectively restored the channel function; their simultaneous use ensured an additive effect. The quantitative results obtained in both cultures of intestinal organoids were very similar.

Translated title of the contributionHealth status of twins with cystic fibrosis and F508del/R334W genotype: opportunities of targeted therapy
Original languageRussian
Pages (from-to)74-82
Number of pages9
JournalVoprosy Prakticheskoi Pediatrii
Volume17
Issue number3
DOIs
Publication statusPublished - 2022

Bibliographical note

Funding Information:
Работа выполнена в рамках государственного задания ФГБНУ «Медико-генетический научный центр» и при финан-совой поддержке благотворительного фонда «Острова». Financial support The work has been carried out within the framework of the government assignment to the Research Centre for Medical Genetics and with the financial support of the Charitable Foundation «Ostrova».

Publisher Copyright:
© 2022, Dynasty Publishing House. All rights reserved.

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