Related Experiment Video

Updated: Feb 15, 2026

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
07:56

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

3.3K

[Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation]

María de Jesús Galaviz-Ballesteros1, Carlos Patricio Acosta-Rodríguez-Bueno1, Alejandra Consuelo-Sánchez1

  • 1Departamento de Gastroenterología y Nutrición, Hospital Infantil de México Federico Gómez, Ciudad de México, México.

Boletin Medico Del Hospital Infantil De Mexico
|February 1, 2018
PubMed

Insights

Pseudo Bartter syndrome (PBS), a condition causing electrolyte imbalances, can occur in infants with cystic fibrosis (CF). This case highlights the importance of considering CF in young children presenting with PBS symptoms.

Area of Science:

  • Pediatric Nephrology
  • Genetic Disorders
  • Metabolic Alkalosis

Context:

  • Pseudo Bartter syndrome (PBS) is characterized by hypokalemic, hypochloremic metabolic alkalosis without renal tubular pathology.
  • Cystic Fibrosis (CF) is a genetic disorder that can lead to electrolyte abnormalities, including PBS, particularly in children.
  • Infants with CF are susceptible to dehydration, vomiting, chronic cough, polyuria, malnutrition, and acute renal failure.

Purpose:

  • To report a case of Pseudo Bartter syndrome (PBS) in an infant with Cystic Fibrosis (CF).
  • To emphasize the diagnostic considerations for PBS in young children.
  • To highlight the association between CF and PBS, especially in infants under two years old.

Summary:

  • A 5-month-old female infant presented with dehydration, vomiting, chronic cough, polyuria, malnutrition, metabolic alkalosis, hypokalemia, hyponatremia, hypochloremia, and acute renal failure.
  • Diagnostic workup excluded other causes of chronic cough and confirmed PBS due to electrolyte imbalances. Cystic Fibrosis was confirmed via sweat electrolyte testing and molecular analysis of the delta F508 mutation.
  • This case illustrates a rare presentation of CF mimicking PBS, underscoring the need for early diagnosis and management.

Impact:

  • This case contributes to the understanding of rare presentations of Cystic Fibrosis.
  • It emphasizes the importance of considering PBS in the differential diagnosis of hyponatremic dehydration with metabolic alkalosis in infants.
  • Early recognition of CF in infants presenting with PBS can prevent severe complications and improve outcomes.
Abstract

Keywords:
Alcalosis metabólicaCystic fibrosisDF508Deshidratación hiponatrémicaFibrosis quísticaHyponatremic dehydrationMetabolic alkalosisPseudo-Bartter syndromeSíndrome pseudo-Bartter

More Related Videos

Growing a Cystic Fibrosis-Relevant Polymicrobial Biofilm to Probe Community Phenotypes03:53

Growing a Cystic Fibrosis-Relevant Polymicrobial Biofilm to Probe Community Phenotypes

Published on: April 19, 2024

1.2K
Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae14:56

Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae

Published on: March 10, 2012

19.1K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
896
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
549
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations01:19

Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations

The pathophysiology of Acute Coronary Syndrome [ACD] involves several key processes:The main underlying cause of ACD is atherosclerosis, a chronic inflammatory disease characterized by the buildup of lipid-laden plaques within the coronary arteries.As the atherosclerotic plaque grows in the coronary artery, it may become unstable due to the formation of a lipid-rich core and a thin fibrous cap. Inflammatory cells within the plaque, such as macrophages, secrete enzymes that degrade the...
456
Mutations01:39

Mutations

Overview
94.7K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.7K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K