Resumen
La fibrosis quÃstica (FQ) es una enfermedad exocrina autosómica recesiva de afectación multisistémica. El defecto asociado a la FQ se encuentra en un regulador transmembrana que actúa principalmente como canal de cloro. Los pacientes suelen presentar clÃnica respiratoria o digestiva. La severidad de la enfermedad es multifactorial, y uno de sus determinantes es el nivel de actividad de la proteÃna CTFR y el tipo de mutación del paciente. El paciente de este caso desarrolló episodios recurrentes de anorexia, pérdida de peso, deshidratación y anomalÃas hidroelectrolÃticas. A pesar de estas manifestaciones poco descritas en la bibliografÃa, se llegó al diagnóstico de FQ. Se encontraron las mutaciones R334W y 1812-1G-4. La FQ se debe considerar particularmente en los lactantes que presentan la clÃnica descrita de deshidrataciones recurrentes con alcalosis metabólica, hiponatremia e hipocloremia inexplicada por otras causas, incluso en ausencia de sÃntomas respiratorios, digestivos o fallo de medro.
Abstract
Cystic fibrosis (CF) is an autosomal recessive exocrine disease affecting multiple organ systems. The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts primarily as a chloride channel. Patients with CF usually present with respiratory and/or gastrointestinal abnormalities. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of anorexia, weight loss, dehydration and electrolyte abnormalities. CF was diagnosed showing an unusual and not very publicized presentation of the disease. Mutations R334W and 1812-1G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with recurrent episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive.