Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia.
J Cyst Fibros
; 21(4): 603-605, 2022 07.
Article
in En
| MEDLINE
| ID: mdl-34974990
ABSTRACT
CFTR mutation carriers, numbering 1 in 25 among Caucasians, have an increased risk of developing chronic pancreatitis due to the underlying dysfunction of ion channels created by the mutant allele. Carriers do not frequently manifest disease due to the remaining wild-type CFTR protein sufficiently maintaining normal pancreatic homeostasis. However, additional risk factors for pancreatitis, such as organic acidemias (as seen in our patient) that further impact function of pancreatic acinar cells can result in the precipitation of CFTR related pancreatitis. Here we report a CFTR carrier with methylmalonic acidemia who was treated with ivacaftor and subsequently experienced resolution of her chronic pancreatitis. Our report suggests that ivacaftor may rescue the function of mutant CFTR in carriers and treat pancreatitis caused by CFTR dysfunction in situations where there are additional precipitating factors.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pancreatitis, Chronic
/
Chloride Channel Agonists
/
Amino Acid Metabolism, Inborn Errors
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
Language:
En
Journal:
J Cyst Fibros
Year:
2022
Document type:
Article