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. 2024 Jan;59(1):229-232.
doi: 10.1002/ppul.26719. Epub 2023 Oct 11.

A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms

Jesun Lee  1 , Ammar Husami  2 , Kavisha Arora  1 , Weiqiang Zhang  3 , Ferdous Kadri  1 , Sunitha Yarlagadda  4 , Changsuk Moon  5 , Kyu Shik Mun  1 , Kejian Zhang  2 , Yunjie Huang  6 , Pramodha Liyanage  1 , John Brewington  4 , John P Clancy  7 , Ala Shaikhkhalil  8 , Grace Paul  8 , Anjaparavanda P Naren  1   4
Affiliations

A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms

Jesun Lee et al. Pediatr Pulmonol. 2024 Jan.
No abstract available

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Conflict of interest statement

Conflict of interest: The authors declare that no conflict of interest exists pertinent to this manuscript.

Methods and supplementary figures and legends are included in the supplementary information.

Figures

Figure 1.
Figure 1.. WES to identify CFTR variants in the patient, and augmentation of CFTR channel function with patient’s mutations to CF modulators
(A) Family pedigree and identification of compound heterozygous mutations of c.1251C>A (p.N417K), c.1408G>A (p.V470M), and c.2249C>T (p.P750L) in the patient’s CFTR gene. (B) Mutation sites in the CFTR protein. (C) The I-V relationships and (D) the current densities for CFTR with the indicated mutations with or without ETI.
Figure 2.
Figure 2.. CF patient’s clinical parameters pre-and post-ETI therapy
(A) clinical parameters and (B) CF patient’s CT chest images and sinus CT imaging prior to and after ETI therapy.
See this image and copyright information in PMC

References

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