MAIA, Catarina et al. Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis. []. , 28, 4, pp.348-351. ISSN 0872-0169.

^len^aIntroduction: 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^lpt^aIntrodução: A fibrose quistica e uma doenca autossomica recessiva que pode envolver multiplos sistemas. Apesar de tipicamente se manifestar por sintomas respiratorios e/ou gastrointestinais, o possivel envolvimento de outros orgaos, nomeadamente com alteracoes do equilibrio acido-base e hidro-electrolitico (denominado sindrome de Pseudo-Bartter), nao pode ser esquecido. Caso Clínico: Os autores apresentam o caso de um lactente, sexo masculino, 4 meses de idade, admitido por recusa alimentar parcial com 2 semanas de evolucao, associada a sensacao materna de irritabilidade. Sem historia previa de sintomas respiratorios ou digestivos. Sem antecedentes familiares relevantes. Ao exame apresentava-se prostrado, embora hemodinamicamente estavel, com sinais de desidratacao moderada. O estudo complementar realizado na admissao mostrou hiponatremia ligeira, associada a alcalose metabolica hipocloremica. No decurso da investigacao etiologica foi realizado teste de suor que se revelou positivo (109mEq/L e 103mEq/L) e estudo genetico que mostrou a mutacao F508del em homozigotia no gene CFTR, o que confirmou o diagnostico de fibrose quistica. Conclusão: Este caso pretende relembrar que, perante uma crianca com alcalose metabolica hipocloremica e desidratacao hiponatremica, deve ser considerado o diagnostico de fibrose quistica mesmo na ausencia de queixas respiratorias ou gastrointestinais. O diagnostico precoce da doenca e fundamental na melhoria do prognostico e da sobrevivencia a longo prazo destas criancas

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