| Journal: | Andes pediatrica |
| Database: | PERIÓDICA |
| System number: | 000448731 |
| ISSN: | 2452-6053 |
| Authors: | Ampuero Acuña, Camila1 Tomarelli Rubio, Gianfranco1 Montes Franceschini, Soledad1 Donoso Fuentes, Alejandro1 |
| Institutions: | 1Hospital Clínico Dra. Eloísa Díaz I., Unidad de Paciente Crítico Pediátrico, Santiago de Chile. Chile |
| Year: | 2022 |
| Season: | Feb |
| Volumen: | 93 |
| Number: | 1 |
| Pages: | 110-116 |
| Country: | Chile |
| Language: | Español |
| Document type: | Artículo |
| Approach: | Caso clínico, descriptivo |
| Spanish abstract | 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 quís tica. Caso Clínico: Lactante masculino de 3 meses de edad quien presentó anormalidades del me dio 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 |
| English abstract | 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 presen tation 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, hypona tremia, hypokalemia, and extreme hypochloremia associated with septic shock due to mixed viral- bacterial pneumonia (Rhino/enterovirus, Streptococcus pneumoniae, and Staphylococcus aureus). Cys tic 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 |
| Disciplines: | Medicina |
| Keyword: | Pediatría, Fisiopatología, Fibrosis quística, Deshidratación, Hiponatremia, Hipokalemia, Déficit de cloro, Alcalosis metabólica |
| Keyword: | Pediatrics, Physiopathology, Cystic fibrosis, Dehydration, Hyponatremia, Hypokalemia, Chloride deficiency, Metabolic alkalosis |
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