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Rev. Eugenio Espejo ; 13(1): 62-71, Ene-Jul. 2019.
Article in Spanish | LILACS | ID: biblio-1006784

ABSTRACT

La fibrosis quística constituye una enfermedad autosómica recesiva producida por una alteración del brazo largo del cromosoma 7 (7q31.2). Al respecto se presenta el caso de una paciente de género femenino de 10 años, que acude a una institución de salud del segundo nivel de atención, por presentar dolor abdominal tipo cólico que inicia en epigastrio y se irradia a hipocondrio bilateral; la misma que presenta diagnóstico de fibrosis quística con tres años de evolución; cuyos valores de amilasa y lipasa permitieron establecer diagnóstico presuntivo de pancreatitis, complicación que no resulta frecuente en pacientes pediátricos. El cuadro clínico permitió observar particularidades que le hacen inusual para ese grupo etario, al observarse complicaciones respiratorias y al desarrollo de pancreatitis. Los protocolos de manejo de la enfermedad, seguidos en las instituciones médicas involucradas, estuvieron acorde con los estándares establecidos a nivel nacional e internacional.


Cystic fibrosis is an autosomal recessive disease produced by an alteration of the long arm of chromosome 7 (7q31.2). In this regard, it was presented the case of a female patient of 10 years of age who went to a health institution of the second level of care due to colic abdominal pain that began in the epigastrium and radiated to bilateral hypochondrium. The same one presented a diagnosis of cystic fibrosis with three years of evolution; whose amylase and lipase values allowed to establish a presumptive diagnosis of pancreatitis, a complication that is not frequent in pediatric patients. The clinical picture allowed to observe peculiarities that make it unusual for this age group due to respiratory complications and the development of pancreatitis. The disease management protocols, followed by the medical institutions involved were in accordance with the standards established at the national and international levels.


Subject(s)
Humans , Female , Child , Pathological Conditions, Signs and Symptoms , Genetic Diseases, Inborn , Congenital, Hereditary, and Neonatal Diseases and Abnormalities , Signs and Symptoms , Congenital Abnormalities
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