Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?

Background Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of thr...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric pulmonology 2019-10, Vol.54 (10), p.1578-1583
Main Authors: Poli, Piercarlo, Rose, Domenico Umberto, Timpano, Silviana, Savoldi, Gianfranco, Padoan, Rita
Format: Article
Language:English
Subjects:
Bartter Syndrome - genetics
CFTR
CFTR‐related disorder
cystic fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Female
Humans
Infant
Infant, Newborn
Male
metabolic alkalosis
Metabolic Diseases - genetics
Mutation
Pseudo‐Bartter syndrome
salt depletion
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of three CF‐negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases. Methods Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (
ISSN:8755-6863
1099-0496
DOI:10.1002/ppul.24433