Case report of two adults with F508del/3849+10 kb C > T
genotype regaining exocrine pancreatic function following
treatment with elexacaftor/tezacaftor/ivacaftor

J 2024

Case report of two adults with F508del/3849+10 kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor

ŠŤASTNÁ, Nela a Eva POKOJOVÁ

Základní údaje

Originální název

Case report of two adults with F508del/3849+10 kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor

Autoři

ŠŤASTNÁ, Nela (203 Česká republika, domácí) a Eva POKOJOVÁ (203 Česká republika, domácí)

Vydání

Journal of Cystic Fibrosis, AMSTERDAM, ELSEVIER, 2024, 1569-1993

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30203 Respiratory systems

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 5.200 v roce 2022

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.jcf.2023.12.001

UT WoS

001303160100001

Klíčová slova anglicky

Cystic fibrosis; Exocrine pancreatic insufficiency; Elexacaftor/tezacaftor/ivacaftor

Štítky

14110215, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 9. 2024 13:45, Mgr. Tereza Miškechová

Anotace

V originále

Cystic fibrosis (CF) is a quality-of-life-limiting disease due to multiorgan complications. Exocrine pancreatic insufficiency (EPI) is one of the most common characteristics of CF. Pancreatic function depends on a CFTR gene mutation's class. The milder mutation carriers confer a dominant effect on the exocrine pancreatic status. EPI typically occurs in people who carry two severe mutations, while pancreatic sufficiency typically occurs in either both mild or mild + severe mutation carriers. F508del belongs to a II. class of CFTR pathogenic variant, which leads to reduction of CFTR protein function. 3849+10 kb C > T is in a class V, which is related to reduction in protein quantity. This pathogenic variant is considered mild according to the pancreatic insufficiency prevalence score; carriers of mild genotypes have a significant increase in risk of developing pancreatitis at any age. Carriers of this mutation combination are likely pancreatic sufficient, however, these patients may develop chronic pancreas inflammation and EPI in adulthood. Fecal elastase (FE-1) 〈 100 μg/g together with the clinical signs is considered as EPI, 100 – 200 μg/g is considered borderline and 〉 200 μg/g indicates sufficient pancreatic function. It is widely thought to be irreversible in adults, and might be restored in the youngest children in the case of targeted therapy use. The modest improvement of frequency and severity of gastrointestinal symptoms in CF was reported after CFTR modulator use, but to date, lumacaftor/ivacaftor, tezacaftor/ivacaftor and elexacaftor/tezacaftor/ivacaftor (ETI) combinations have not been demonstrated to affect exocrine pancreatic function in adults. Here, we present 2 cases of adult CF patients who improved their pancreatic function serum values after ETI commencement.

Citovat

ŠŤASTNÁ, Nela a Eva POKOJOVÁ. Case report of two adults with F508del/3849+10 kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor. Journal of Cystic Fibrosis. AMSTERDAM: ELSEVIER, 2024, roč. 23, č. 4, s. 1-2. ISSN 1569-1993. Dostupné z: https://dx.doi.org/10.1016/j.jcf.2023.12.001.

@article{2403019,
   author = {Šťastná, Nela and Pokojová, Eva},
   article_location = {AMSTERDAM},
   article_number = {4},
   doi = {http://dx.doi.org/10.1016/j.jcf.2023.12.001},
   keywords = {Cystic fibrosis; Exocrine pancreatic insufficiency; Elexacaftor/tezacaftor/ivacaftor},
   language = {eng},
   issn = {1569-1993},
   journal = {Journal of Cystic Fibrosis},
   title = {Case report of two adults with F508del/3849+10 kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor},
   url = {https://www.sciencedirect.com/science/article/pii/S1569199323017253?via%3Dihub},
   volume = {23},
   year = {2024}
}

TY  - JOUR
ID  - 2403019
AU  - Šťastná, Nela - Pokojová, Eva
PY  - 2024
TI  - Case report of two adults with F508del/3849+10 kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor
JF  - Journal of Cystic Fibrosis
VL  - 23
IS  - 4
SP  - 1-2
EP  - 1-2
PB  - ELSEVIER
SN  - 15691993
KW  - Cystic fibrosis
KW  - Exocrine pancreatic insufficiency
KW  - Elexacaftor/tezacaftor/ivacaftor
UR  - https://www.sciencedirect.com/science/article/pii/S1569199323017253?via%3Dihub
N2  - Cystic fibrosis (CF) is a quality-of-life-limiting disease due to multiorgan complications. Exocrine pancreatic insufficiency (EPI) is one of the most common characteristics of CF. Pancreatic function depends on a CFTR gene mutation's class. The milder mutation carriers confer a dominant effect on the exocrine pancreatic status. EPI typically occurs in people who carry two severe mutations, while pancreatic sufficiency typically occurs in either both mild or mild + severe mutation carriers. F508del belongs to a II. class of CFTR pathogenic variant, which leads to reduction of CFTR protein function. 3849+10 kb C > T is in a class V, which is related to reduction in protein quantity. This pathogenic variant is considered mild according to the pancreatic insufficiency prevalence score; carriers of mild genotypes have a significant increase in risk of developing pancreatitis at any age. Carriers of this mutation combination are likely pancreatic sufficient, however, these patients may develop chronic pancreas inflammation and EPI in adulthood. Fecal elastase (FE-1) 〈 100 μg/g together with the clinical signs is considered as EPI, 100 – 200 μg/g is considered borderline and 〉 200 μg/g indicates sufficient pancreatic function. It is widely thought to be irreversible in adults, and might be restored in the youngest children in the case of targeted therapy use. The modest improvement of frequency and severity of gastrointestinal symptoms in CF was reported after CFTR modulator use, but to date, lumacaftor/ivacaftor, tezacaftor/ivacaftor and elexacaftor/tezacaftor/ivacaftor (ETI) combinations have not been demonstrated to affect exocrine pancreatic function in adults. Here, we present 2 cases of adult CF patients who improved their pancreatic function serum values after ETI commencement.
ER  -

ŠŤASTNÁ, Nela a Eva POKOJOVÁ. Case report of two adults with F508del/3849+10 kb C \&{}gt; T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor. \textit{Journal of Cystic Fibrosis}. AMSTERDAM: ELSEVIER, 2024, roč.~23, č.~4, s.~1-2. ISSN~1569-1993. Dostupné z: https://dx.doi.org/10.1016/j.jcf.2023.12.001.

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