Related Experiment Video
Updated: Jul 18, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Hyponatremic dehydration as a presentation of cystic fibrosis
Yolanda Ballestero1, María Isabel Hernandez, Pablo Rojo
1Hospital Universitario 12 de Octubre, Madrid, Spain. yballestero@yahoo.es
Insights
Cystic fibrosis (CF) can present as hyponatremic dehydration with metabolic alkalosis, especially in infants during summer. Early recognition is crucial for timely diagnosis and management of CF when neonatal screening is unavailable.
Area of Science:
- Pediatrics
- Genetics
- Metabolic Disorders
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Hyponatremic dehydration with metabolic alkalosis is an uncommon presentation of CF.
- Neonatal screening for CF is not universally available.
Observation:
- A case report details a 12-month-old girl with recurrent vomiting, weight loss, hyponatremia, hypochloremia, and metabolic alkalosis.
- This patient was diagnosed with CF via positive sweat tests.
- A retrospective review identified 16.8% of CF patients (N=77) presenting with metabolic alkalosis and electrolyte depletion between 1985-2004.
Findings:
- The prevalence of metabolic alkalosis with electrolyte depletion as an initial presentation of CF was 16.8% in the reviewed cohort.
- Affected infants ranged from 3 to 14 months old, with episodes occurring during summer.
- Sodium depletion is highlighted as a significant, albeit sometimes overlooked, early sign of CF.
Implications:
- Cystic Fibrosis should be considered in the differential diagnosis of unexplained hyponatremic dehydration in children.
- This is particularly important in regions lacking widespread neonatal CF screening.
- Prompt diagnosis can lead to earlier intervention and improved outcomes for CF patients.
Background:
The purpose of this study is to present a case report of a child with hyponatremic dehydration diagnosed after CF and to review the cases of 13 patients with CF who had the same initial presentation in our hospital.
Methods:
This report reviewed the clinical records of children diagnosed with CF to ascertain the prevalence of metabolic alkalosis with electrolyte depletion as the presentation of CF. It also used sweat tests to diagnose a child with CF.
Results:
The laboratory tests of a 12-month-old girl presented 3 times to the ;pediatric emergency department with vomiting and weight loss showed hyponatremia, hypochloremia, and metabolic alkalosis. The patient was subsequently diagnosed with CF by means of 2 positive sweat tests. Meanwhile, the review of the clinical records of all children diagnosed with CF from 1985 to 2004 (N = 77) showed that the prevalence of metabolic alkalosis with electrolyte depletion as the presentation of CF was 16.8%. The age of the infants ranged from 3 to 14 months. All episodes took place during summer.
Conclusions:
There are not many causes of metabolic alkalosis with hyponatremic dehydration, and one of them is CF. This report emphasizes sodium depletion as a common sign of CF presentation. This is most important in countries where the neonatal screening test for CF is not available because the disease may be asymptomatic or oligosymptomatic for several months or even years. Cystic fibrosis should be considered in differential diagnosis of any child presenting with unexplained hyponatremic dehydration.
More Related Videos
Related Concept Videos
Disorder of Water Balance
Dehydration
Dehydration occurs when the body loses fluids (particularly water).
Causes:
The major causes of dehydration include excessive sweating, fever, vomiting, diarrhea, and diuresis.
Signs and Symptoms:
Symptoms primarily include intense...
Regulation of Water Intake
Hyperosmolar Hyperglycemic State
Renal Tubule and Collecting Duct
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Diabetes Insipidus II: Pathophysiology
Cystic Fibrosis: Pathogenesis
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, but...

