Síndrome de pseudo-Bartter como presentación inicial de fibrosis quística

Abstract

The clinical manifestations of cystic fibrosis may involve multiple organs. Although the respiratory and gastrointestinal are the most commonly affected systems, it can present as an acid- base and electrolyte imbalance called pseudo -Bartter syndrome which is defined as an episode of dehidration with metbolic alkalosis with hypochloremia, hyponatremia and hypokalemia in the absence of renal tubular pathology. We report a case of a 4-month-old male infant with 2 previous episodes of moderate dehydration and hydroelectrolyte imbalance with hyponatremia. He was admitted on January 27 th 2017 for 20-days hospital stay. On his 3th hospitalization, he was admitted with acute gastroenteritis, moderate dehydration, hydroelectrolyte imbalance, and probable metabolic disorder. Due to the presence of metabolic hypochloremic alkalosis with hyponatremia and hypokalemia without renal tubulopathy, Pseudo Bartter Syndrome was diagnosed and cystic fibrosis was suspected and corroborated later with the measurement of sweat electrolytes and molecular analysis of mutations.Conclusion: The diagnosis of cystic fibrosis must be suspected in a child, especially those under 2 years old, with hyponatremic hypochloremic,hypokalemic metabolic alkalosis dehydration should be considered even in the absence of respiratory or gastrointestinal symptoms, which are typically present in this disease. An early diagnosis is essential to improve the prognosis and long term survivor