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Boletín médico del Hospital Infantil de México
versión impresa ISSN 1665-1146
Resumen
GALAVIZ-BALLESTEROS, María de Jesús et al. Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation. Bol. Med. Hosp. Infant. Mex. [online]. 2016, vol.73, n.5, pp.331-334. ISSN 1665-1146. https://doi.org/10.1016/j.bmhimx.2016.04.004.
Background:
Pseudo Bartter syndrome (PBS) is defined as hypokalaemic hypochloraemic metabolic alkalosis in the absence of renal tubular pathology. Children with cystic fibrosis (CF) are at risk of developing electrolyte abnormalities and even PBS may occur.
Case report:
5 months old female infant with a history of two events of dehydration with vomit, refusal to eat, chronic cough, polyuria, malnutrition, metabolic alkalosis, hypokalemia, hyponatremia, hypochloremia and acute renal failure. Chronic cough study was performed, discarding pulmonary tuberculosis, gastroesophageal reflux disease and impaired swallowing. PBS was diagnosed due to hypokalaemic hypochloraemic metabolic alkalosis in the absence of renal tubular pathology. CF was corroborated by electrolytes in sweat and through molecular analysis of the delta F508 mutation. This is one of the few reported cases linking PBS and this mutation.
Conclusions:
In patients with hyponatremic dehydration episodes with hypokalaemic hypochloraemic metabolic alkalosis, PBS should be considered as differential diagnosis. CF could be presented as PBS, mainly in patients younger than 2 years.
Palabras llave : Pseudo-Bartter syndrome; Cystic fibrosis; Hyponatremic dehydration; Metabolic alkalosis; DF508.