Pseudo‐Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report

The introduction of newborn screening for cystic fibrosis (CF) increased diagnosis of cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We described the case of a 12‐month‐old boy with CFSPID who, during summer, presented Pseudo‐Bartter syndrome with no diagnostic criteria for CF....

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Detalles Bibliográficos
Autores principales: Sepe, Angela, Romano, Camilla, Landi, Ivana, Castaldo, Alice, Cimbalo, Chiara, Farina, Federica, Scorza, Manuela, Salvadori, Laura, Raia, Valeria, Tosco, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659916/
https://www.ncbi.nlm.nih.gov/pubmed/38028053
http://dx.doi.org/10.1002/ccr3.8046
Descripción
Sumario:The introduction of newborn screening for cystic fibrosis (CF) increased diagnosis of cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We described the case of a 12‐month‐old boy with CFSPID who, during summer, presented Pseudo‐Bartter syndrome with no diagnostic criteria for CF.

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