Extreme electrolyte depletion associated with septic shock as a form of presentation of cystic fibrosis

Ampuero Acuña, Camila; Tomarelli Rubio, Gianfranco; Montes Franceschini, Soledad; Donoso Fuentes, Alejandro

Depleción electrolítica extrema asociada con shock séptico como forma de presentación de fibrosis quística

dc.contributor		en-US
dc.contributor		es-ES
dc.creator	Ampuero Acuña, Camila
dc.creator	Tomarelli Rubio, Gianfranco
dc.creator	Montes Franceschini, Soledad
dc.creator	Donoso Fuentes, Alejandro
dc.date	2022-02-14
dc.date.accessioned	2022-05-09T15:02:57Z
dc.date.available	2022-05-09T15:02:57Z
dc.identifier	http://www.revistachilenadepediatria.cl/index.php/rchped/article/view/3766
dc.identifier	10.32641/andespediatr.v93i1.3766
dc.identifier.uri	https://revistaschilenas.uchile.cl/handle/2250/182287
dc.description	In the pediatric emergency department, dehydrated children are one of the most frequent causes for consultation, however, the coexistence of hyponatremia with hypochloremia and metabolic alkalosis is rare. The presence of metabolic alkalosis due to chloride depletion has been reported as a form of presentation of Cystic Fibrosis (CF). Objective: to describe a case of cystic fibrosis of unusual presentation in a pediatric patient. Clinical Case: we report a 3-month-old previously healthy male infant who presented with internal environment abnormalities consisting of metabolic alkalosis, hyponatremia, hypokalemia, and extreme hypochloremia associated with septic shock due to mixed viralbacterial pneumonia (Rhino/enterovirus, Streptococcus pneumoniae, and Staphylococcus aureus). Cystic fibrosis (CF) was suspected, thus the diagnosis was corroborated by sweat test and genetic study which showed the pathogenic variants c.2834C>T (p.Ser945Leu) and c.3484C>T (p.Arg1162X), both heterozygous. Conclusion: special attention should be paid to the existence of hypochloremia with metabolic alkalosis and hyponatremia associated or not with pulmonary disease, suspecting CF as the first option. This consideration becomes more relevant in those countries where the neonatal screening test is not widely available.	en-US
dc.description	La deshidratación es una causa frecuente de consulta en emergencia pediátrica, siendo inhabitual la coexistencia de alcalosis metabólica hipoclorémica y deshidratación hiponatrémica. La presencia de alcalosis metabólica por depleción de cloro se ha reportado como una forma de presentación de Fibrosis Quística (FQ). Objetivo: Describir una forma de presentación inhabitual de fibrosis quística. Caso Clínico: Lactante masculino de 3 meses de edad quien presentó anormalidades del medio interno consistentes en alcalosis metabólica, hiponatremia, hipokalemia e hipocloremia extrema asociadas a shock séptico secundario a etiología mixta (Rhino/enterovirus, Streptoccus pneumoniae y Staphyloccus aureus). Se sospechó FQ, corroborándose el diagnóstico con medición de electrolitos en sudor y estudio genético, donde se evidenciaron dos variantes patogénicas; S945L (c.2834C>T o p.Ser945Leu) y R1162X (c.3484C>T o p.Arg1162X), ambas heterocigotas. Conclusión: Se debe prestar especial atención ante la existencia de alcalosis metabólica hipoclorémica y deshidratación hiponatrémica asociado o no a compromiso pulmonar, sospechando FQ como primera opción. Esta consideración toma mayor relevancia en aquellos países donde el test de tamizaje neonatal no está ampliamente disponible.	es-ES
dc.format	application/pdf
dc.language	spa
dc.publisher	Sociedad Chilena de Pediatría	es-ES
dc.relation	http://www.revistachilenadepediatria.cl/index.php/rchped/article/view/3766/3666
dc.relation	http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/3766/11310
dc.relation	http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/3766/11314
dc.relation	http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/3766/11551
dc.relation	http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/3766/11313
dc.relation	http://www.revistachilenadepediatria.cl/index.php/rchped/article/downloadSuppFile/3766/11564
dc.rights	Copyright (c) 2022 Andes Pediatrica	es-ES
dc.source	Revista Chilena de Pediatría; Vol. 93, Núm. 1 (2022): Enero - Febrero; 110-116	en-US
dc.source	Andes Pediatrica; Vol. 93, Núm. 1 (2022): Enero - Febrero; 110-116	es-ES
dc.source	2452-6053
dc.source	2452-6053
dc.subject		en-US
dc.subject	Cystic Fibrosis; Dehydration; Hyponatremia; Hypokalemia; Chloride Deficiency; Metabolic Alkalosis	en-US
dc.subject		es-ES
dc.subject	Fibrosis Quística; Deshidratación; Hiponatremia; Hipokalemia; Déficit de Cloro; Alcalosis Metabólica	es-ES
dc.title	Extreme electrolyte depletion associated with septic shock as a form of presentation of cystic fibrosis	en-US
dc.title	Depleción electrolítica extrema asociada con shock séptico como forma de presentación de fibrosis quística	es-ES
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
dc.type		en-US
dc.type		es-ES

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