Pseudo‐Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report-Reference-Cited by-同舟云学术

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

Published:2023-11 Issue:11 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Sepe Angela¹^ORCID,Romano Camilla²,Landi Ivana²,Castaldo Alice²,Cimbalo Chiara²,Farina Federica³,Scorza Manuela³,Salvadori Laura¹,Raia Valeria²,Tosco Antonella¹

Affiliation:

1. Department of Maternal and Child health, Paediatric Unit, Cystic Fibrosis Regional Reference Center A.O.U. Federico II Naples Italy

2. Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center University of Naples Federico II Naples Italy

3. CEINGE Biotecnologie Avanzate Scarl Franco Salvatore Naples Italy

Abstract

Key Clinical MessageThe 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.8046

Reference15 articles.

1. Newborn Screening for CF across the Globe—Where Is It Worthwhile?

2. Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders

3. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening

4. European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

5. Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis