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

Pediatric Emergency Care
|November 18, 2006
PubMed

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.
Abstract

Related Concept Videos

Disorder of Water Balance01:29

Disorder of Water Balance

Water balance disorders are medical conditions that occur when there is a deviation from the body's water volume or osmolarity, disrupting normal homeostasis and leading todehydration, hypotonic hydration, hyperhydration, edema, or water intoxication.
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 Intake01:25

Regulation of Water Intake

Osmolality refers to the number of solute particles per kilogram of solvent in a solution. Plasma osmolality specifically indicates the total number of solute particles per kilogram of water in blood plasma. This value reflects the body's hydration status and is tightly regulated through mechanisms controlling water intake and output. While water consumption is a conscious decision, the body has intrinsic regulatory systems to maintain fluid balance. Dehydration, a state of water deficit...
Hyperosmolar Hyperglycemic State01:21

Hyperosmolar Hyperglycemic State

Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
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: Pathophysiology01:22

Diabetes Insipidus II: Pathophysiology

Normally, water balance is maintained through three interconnected mechanisms: the hypothalamic thirst center, the synthesis and release of antidiuretic hormone (ADH, or vasopressin), and the kidneys' responsiveness to this hormone. ADH is synthesized in the hypothalamus, released from the posterior pituitary, and acts on the distal nephron, allowing water reabsorption and concentrated urine production.Diabetes Insipidus and Its TypesIn diabetes insipidus (DI), this regulatory system is...
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, but...