Paciente varón de tres años con sibilancias y tos crónica
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Se presenta el caso de un niño de 3 años con diagnóstico de asma, rinitis alérgica, características craneofaciales dismórficas e infecciones respiratorias altas y bajas recurrentes, manejado como asma desde un inicio. Como parte del estudio de comorbilidades, se decide realizar una prueba del sudor que sale en rango intermedio y más tarde se encuentra una mutación, donde se obtiene un resultado positivo para una copia que se asocia a fibrosis quística. Se revisará el caso, así como el diagnóstico, clínica y tratamiento del síndrome metabólico relacionado con el regulador de conductancia transmembrana de fibrosis quística (CRMS).
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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