Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis

• Autor(a) principal: Maia,Catarina
• Data de Publicação: 2014
• Outros Autores: Garrido,Ana, Carvalho,Isabel, Pinto,Helena, Vaz,Luisa Guedes, Ferreira,Graca
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400012
• topic: Children; cystic fibrosis; dehydration; metabolic alkalosis; pseudo-Bartter syndrome

Introduction: The clinical manifestations of cystic fibrosis may involve multiple organs. Although the most commonly affected systems are respiratory and gastrointestinal ones, it can present as an acid-base and electrolyte imbalance called pseudo-Bartter syndrome. Case Report: We present a case of a 4-month-old boy that presented in our hospital in mid-August with complaints of anorexia and irritability for two weeks. There had been no previous history of respiratory or gastrointestinal symptoms. His parents and remaining family were healthy. Physical examination showed an irritable child with moderate dehydration. No other abnormalities were recorded. Laboratory tests on admission revealed hyponatremic hypochloremic dehydration and metabolic alkalosis. Further investigation showed a high sweat chloride concentration (109mEq/L and 103mEq/L) and a genetic profile confirmed the diagnosis of delF508/delF508 cystic fibrosis. Conclusion: The authors describe this case to remind that the diagnosis of cystic fibrosis should be always considered in any infant with metabolic alkalosis and hyponatremic hypochloremic dehydration, whether or not there are associated pulmonary and/or gastrointestinal symptoms typical for cystic fibrosis. Early diagnosis is essential in improving the prognosis and long-term survival of these children