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Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia.
Tang, Tin-Yun; Cruz, Vincent B; Konczal, Laura L.
Afiliación
  • Tang TY; The University of Texas MD Anderson Cancer, Division of Cancer Medicine, 1515 Holcombe Blvd, Unit 463 FC11.3055, Houston, TX 77030.
  • Cruz VB; DDC Clinic, 14567 Madison Road, Middlefield, OH, 44062.
  • Konczal LL; Case Western Reserve University School of Medicine, Department of Genetics and Genome Sciences, Cleveland, OH 44106; University Hospitals Case Medical Center, Center for Human Genetics, 11100 Euclid Ave, Lakeside 1500, Cleveland, OH 44106. Electronic address: Laura.Konczal@uhhospitals.org.
J Cyst Fibros ; 21(4): 603-605, 2022 07.
Article en En | MEDLINE | ID: mdl-34974990
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pancreatitis Crónica / Agonistas de los Canales de Cloruro / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: J Cyst Fibros Año: 2022 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pancreatitis Crónica / Agonistas de los Canales de Cloruro / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: J Cyst Fibros Año: 2022 Tipo del documento: Article Pais de publicación: Países Bajos