Cystic Fibrosis and CFTR-related Disorder with Electrolyte Imbalance at Diagnosis: Clinical Features and Outcome in an Italian Cohort

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2023 Sep 19

PMID 37725210

Authors

Vito Terlizzi

Rita Padoan

Giuseppina Leonetti

Pamela Vitullo

Antonella Tosco

Giovanni Taccetti

Cristina Fevola

Francesca Ficili

Angela Pepe

Piercarlo Poli

Laura Claut

Valeria Dacco

Donatello Salvatore

Affiliations

Soon will be listed here.

Abstract

Conclusions: Most CF patients presenting with isolated HMA have a mild course of disease and rarely CF-related complications.

What Is Known: • Isolated episode of hypoelectrolytemia with metabolic alkalosis is a well-known onset symptom of Cystic Fibrosis in infancy. • There is limited information available on the clinical data and outcomes of individuals with Cystic Fibrosis who present with electrolyte imbalance at diagnosis.

What Is New: • Most patients with Cystic Fibrosis presenting with isolated hypoelectrolytemia and metabolic alkalosis have a mild course of disease and rarely CF-related complications. • Electrolyte imbalance at diagnosis of Cystic Fibrosis is a common symptom in children not screened for CF at birth, or in those who received a false negative result from newborn screening.

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