Three-Year-Old Male with Wheezing and Chronic Cough
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Abstract
We present the case of a 3-year-old boy with a diagnosis of asthma, allergic rhinitis, dysmorphic craniofacial characteristics and recurrent upper and lower respiratory infections, managed as asthma from the beginning. As part of the study of comorbidities, it was decided to carry out a sweat test that came out in the intermediate range and later one mutation was found, where a positive result was obtained for a copy that is associated with cystic fibrosis. The case will be reviewed, as well as the diagnosis, symptoms and treatment of the metabolic syndrome related to the cystic fibrosis transmembrane conductance regulator (CRMS).
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References
Broaddus VC, Ernst JD, King TE et al. Cystic Fibrosis. In: Murray & Nadel's textbook of Respiratory Medicine. 7th ed. Elsevier. Philadelphia, 2022; Vol. 2, pp. 985-987.
Kapnadak SG, Dimango E, Hadjiliadis D et al. Cystic Fibrosis Foundation Consensus Guidelines for the care of individuals with advanced cystic fibrosis lung disease. J Cyst Fibros 2020;19(3):344–354. Doi: 10.1016/j.jcf.2020.02.015.
Abou Tayoun AN, Tunkey CD, Pugh TJ et al. A comprehensive assay for CFTR mutational analysis using next-generation sequencing. Clin Chem 2013;59(10):1481–8. Doi:10.1373/clinchem.2013.206466
CFTR-related metabolic syndrome (CRMS) Cystic Fibrosis Foundation. [Internet]. [Consultado 23 Jul 2023]. Disponible en: https://www.cff.org/intro-cf/cftr-related-metabolic-syndrome-crms
Cuppens H, Cassiman J. CFTR mutations and polymorphisms in male infertility. Int J Androl 2004;27(5):251–256. Doi: 10.1111/j.1365-2605.2004.00485.x.
Ren CL, Borowitz DS, Gonska T et al. Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome and cystic fibrosis screen positive, inconclusive diagnosis. J Pediatr 2017;181:45–51. Doi: 10.1016/j.jpeds.2016.09.066
Bauer SE, Wesson M, Oles SK, Ren CL. Outcomes of repeat sweat testing in Cystic Fibrosis Newborn Screen positive infants. Pediatr Pulmonol 2021;56(6):1521–1526. Doi: 10.1002/ppul.25296
Terlizzi V, Mergni G, Centrone C, Festini F, Taccetti G. Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time? Pediatr Pulmonol 2020;55(5):1089–93. Doi: 10.1002/ppul.24721
Borowitz D, Parad RB, Sharp JK et al. Cystic Fibrosis Foundation Practice Guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009;155(6):155–156. Doi: 10.1016/j.jpeds.2009.09.003
Terlizzi V, Claut L, Tosco A et al. A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres. J Cyst Fibros 2021;20(5):828–34. Doi: 10.1016/j.jcf.2021.03.015
Munck A, Mayell SJ, Winters V et al. Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 2015;14(6):706–13. Doi: 10.1016/j.jcf.2015.01.001
Ooi CY, Sutherland R, Castellani C et al. Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis. BMC Pediatrics 2019;19(1). Doi: 10.1186/s12887-019-1756-4
Meléndez-Montañez JM, De Jesús-Rojas W. CFTR-related metabolic syndrome: Genetic variants increasing pancreatitis risk in the pediatric Puerto Rican population. Children 2023;10(2):280. Doi: 10.3390/children10020280
Arkansas Cystic Fibrosis Care Center (ACFCC). [Internet]. [Consultado 9 ene 2024]. Disponible en: https://arkansascf.com/caregiver/handouts-crms